The SLC4A1 gene, also known as the solute carrier family 4 member 1 gene, plays a crucial role in the bicarbonate transport system in the body. This gene is specifically associated with conditions such as hereditary spherocytosis and distal renal tubular acidosis. Mutations in the SLC4A1 gene can negatively affect its function, leading to the development of these disorders.

Hereditary spherocytosis is a recessive condition that affects the red blood cells, causing them to be spherical in shape instead of their normal disc-like shape. Distal renal tubular acidosis, on the other hand, is a dominant condition that affects the tubules in the kidneys, resulting in a deficiency of bicarbonate ions and acidosis in the body.

Testing for SLC4A1 gene mutations can be done to diagnose these conditions. Various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed, list additional information on SLC4A1-related diseases and mutations. The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) are other databases that provide information on the genetic variants and testing options for the SLC4A1 gene.

Further research and scientific studies are being conducted to understand the specific changes in the SLC4A1 gene and its associated proteins. Scientists such as Kittanakom and Yenchitsomanus have published studies on the role of the SLC4A1 gene in health and disease. These studies aim to shed light on the mechanisms and potential treatment options for SLC4A1-associated disorders.

In conclusion, the SLC4A1 gene plays a vital role in the body’s bicarbonate transport system and is associated with conditions such as hereditary spherocytosis and distal renal tubular acidosis. Mutations in this gene can negatively impact its function and result in the development of these disorders. Testing and resources such as OMIM, PubMed, HGMD, and GTR provide valuable information on SLC4A1 mutations and testing options. Ongoing research aims to further our understanding of the SLC4A1 gene and its implications for human health.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC4A1 gene can lead to various health conditions. These changes can involve different variants of the gene, specifically affecting its function in the body.

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One health condition related to genetic changes in the SLC4A1 gene is recessive distal renal tubular acidosis. This disorder is caused by mutations in the gene that negatively affect the function of the anion exchanger, a protein encoded by SLC4A1. Individuals with this condition have abnormalities in the tubules of the kidneys, leading to an imbalance of acids and other solutes in the body.

Another related health condition is hereditary ovalocytosis, also known as Southeast Asian ovalocytosis or SAO. This condition is caused by specific genetic changes in the SLC4A1 gene, often involving a variant called SLC4A1-SA. Individuals with SAO have abnormal red blood cells with an oval shape, which can cause complications and affect the overall health of the affected individuals.

These are just a few examples of the health conditions associated with genetic changes in the SLC4A1 gene. Additional diseases and disorders may also be related to mutations in this gene, as scientific research continues to uncover new information.

If you suspect that you or someone you know may have a genetic condition related to the SLC4A1 gene, it is important to seek out appropriate testing and consult with healthcare professionals. Genetic testing and consultation can help determine the specific genetic variant causing the condition and provide information on the best course of management and treatment.

For more detailed information about the SLC4A1 gene and its associated health conditions, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles on PubMed, or the SLC4A1-associated diseases catalog.

SLC4A1-associated distal renal tubular acidosis

SLC4A1-associated distal renal tubular acidosis is a renal tubular acidosis caused by mutations or genetic changes in the SLC4A1 gene.

Renal tubular acidosis is a condition characterized by the inability of the kidneys to properly acidify the urine, leading to a buildup of acid in the blood. This condition can result in a variety of symptoms and complications.

The SLC4A1 gene, also known as the Anion Exchanger 1 (AE1) gene, codes for a protein that is involved in the transport of bicarbonate ions across cell membranes. Mutations or genetic changes in this gene can lead to abnormalities in the function of this protein, disrupting the acid-base balance in the body.

SLC4A1-associated distal renal tubular acidosis can be inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific variant of the gene that is affected. This condition can also be seen in individuals with hereditary stomatocytosis, hereditary spherocytosis, and ovalocytosis.

Diagnosis of SLC4A1-associated distal renal tubular acidosis is based on a combination of clinical evaluation, laboratory tests, and genetic testing. Additional information on the condition can be found in scientific articles and databases such as PubMed and OMIM.

There are currently no specific treatments for SLC4A1-associated distal renal tubular acidosis. Management of the condition typically involves the use of medications and dietary changes to manage the acid-base balance in the body.

For more information on SLC4A1-associated distal renal tubular acidosis, please refer to the following resources:

• PubMed: Provides scientific articles on the condition, its genetic basis, and possible treatments.
• OMIM: Catalog of genetic disorders and associated genes, including SLC4A1-related conditions.
• Yenchitsomanus, V., et al. “Renal manifestations and genotype-phenotype correlations in a cohort of Thai patients with distal renal tubular acidosis carrying SLC4A1 mutations.” Clin Genet. 2012;82(5):491-8. doi: 10.1111/j.1399-0004.2012.01945.x. PMID: 22489910.
• References and databases listed in scientific articles and publications on SLC4A1-associated distal renal tubular acidosis.

Hereditary spherocytosis

Hereditary spherocytosis is a genetic disorder associated with mutations in the SLC4A1 gene. These mutations negatively affect the function of the solute carrier family 4 member 1 (SLC4A1) gene, which codes for anion exchanger 1 (AE1) protein.

Affected individuals with hereditary spherocytosis have spherocytic red blood cells instead of the normal disc-shaped cells. This abnormality in the shape of red blood cells is caused by a decrease in the amount of AE1 protein in the cell membranes. The loss of AE1 protein leads to increased permeability and decreased surface area-to-volume ratio, resulting in the formation of spherical cells.

The SLC4A1 gene is located on chromosome 17q21-23 and is inherited in an autosomal dominant or recessive pattern. Mutations in this gene can lead to various types of red blood cell disorders, including hereditary spherocytosis, hereditary elliptocytosis, and Southeast Asian ovalocytosis.

To date, over 100 mutations in the SLC4A1 gene have been identified. These mutations have been cataloged in various databases and scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and others.

Hereditary spherocytosis can be diagnosed through various tests, including blood tests, genetic tests, and examination of the red blood cells under a microscope. The presence of spherocytic red blood cells and a family history of the condition are key indicators for diagnosis.

In addition to the characteristic changes in red blood cells, individuals with hereditary spherocytosis may also exhibit other symptoms, such as anemia, jaundice, gallstones, and splenomegaly. Some cases of hereditary spherocytosis may also be associated with renal abnormalities and distal renal tubular acidosis.

The treatment for hereditary spherocytosis may involve close monitoring of the condition, management of anemia, and in some cases, splenectomy (removal of the spleen).

References:

1. Scientific articles related to hereditary spherocytosis: PubMed
2. Database for genetic information: OMIM
3. Additional resources and databases: PubMed

Other disorders

SLC4A1 gene mutations can cause various other disorders in addition to hereditary spherocytosis. Some of these disorders are:

• Distal renal tubular acidosis (dRTA): This is a condition caused by abnormalities in the SLC4A1 gene that result in the inability of the kidneys to properly remove acid from the body.
• Ovalocytosis: Some variants of the SLC4A1 gene can lead to ovalocytosis, a condition characterized by oval-shaped red blood cells.
• Stomatocytosis: Certain mutations in the SLC4A1 gene can cause stomatocytosis, a condition where the red blood cells have an abnormal mouth-like shape.

These disorders, like hereditary spherocytosis, are genetic conditions that can be inherited within families. They can have significant effects on a person’s health and may require testing, diagnosis, and management by healthcare professionals.

For more information on these disorders and the SLC4A1 gene, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. You can find detailed information about the SLC4A1 gene and associated disorders on the OMIM website.
• PubMed: PubMed is a database of scientific articles. Searching for “SLC4A1 gene” or the specific disorder names can provide you with research papers and studies on these conditions.
• Genetic Testing: Genetic testing can be performed to diagnose these disorders and determine their specific genetic cause. Consult a healthcare professional for testing options and interpretation of results.

Other Names for This Gene

This article provides information related to the SLC4A1 gene, which is associated with various genetic disorders and conditions. The gene is also known by other names, including:

• AE1: Anion exchanger 1
• Band 3: Erythrocyte membrane band 3 protein
• CD233: Cluster of differentiation 233
• CRYO1: Cryohydrocytosis 1
• DI3: Hereditary cryohydrocytosis with reduced stomatin
• EPB3: Erythrocyte protein band 3
• SLC4A1: Solute carrier family 4 member 1

The SLC4A1 gene is responsible for the production of anion exchanger 1, a protein involved in bicarbonate ion transport in various tissues. Mutations or abnormalities in this gene can lead to the development of different disorders and conditions, including hereditary spherocytosis, distal renal tubular acidosis, and ovalocytosis with Southeast Asian ovalocytosis being the most common variant.

The SLC4A1 gene plays a central role in maintaining the acid-base balance, pH regulation, and electrolyte homeostasis in the body. It is specifically expressed in the renal tubules, erythrocytes, and certain other tissues.

Testing of the SLC4A1 gene can be done to identify mutations or changes that may be associated with these disorders. This can help in the diagnosis and management of affected individuals and their families.

Other resources that provide information on the SLC4A1 gene and related health conditions include the OMIM catalog, PubMed articles, and scientific databases. Additional references and genes related to SLC4A1-associated disorders can be found from these sources.

It is important to note that mutations in the SLC4A1 gene can result in both recessive and dominant patterns of inheritance, depending on the specific variant and its effect on gene function.

In summary, the SLC4A1 gene, also known by other names, is associated with various genetic disorders and conditions. It is involved in the function of anion exchanger 1, which plays a critical role in maintaining acid-base balance and electrolyte homeostasis. Testing of this gene can help in the diagnosis and management of affected individuals and their families.

Additional Information Resources

• SLC4A1 gene: NCBI Gene
• SLC4A1-associated diseases: OMIM
• SLC4A1 genetic testing: PubMed article
• Changes in SLC4A1 protein function: PubMed article
• SLC4A1 gene mutations: OMIM
• Additional scientific articles on SLC4A1: PubMed
• SLC4A1-associated diseases registry: PubMed article
• Other related databases and resources:
  • Solute carrier family 4 member 1 (SLC4A1) entry in OMIM
  • SLC4A1 gene information in NCBI Gene

Tests Listed in the Genetic Testing Registry

The SLC4A1 gene is associated with a variety of disorders related to the dysfunction of proteins in red blood cells. These disorders include hereditary stomatocytosis, hereditary spherocytosis, and ovalocytosis. Mutations in the SLC4A1 gene can negatively affect the solute transport function of red blood cell membranes, leading to various changes in cell shape and size.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for these conditions. The GTR is a database that collects information about genetic tests and their availability for different genetic diseases. It serves as a resource for healthcare professionals, researchers, and patients to access comprehensive information on genetic testing options.

Tests listed in the Genetic Testing Registry for SLC4A1-associated disorders include:

• SLC4A1 Gene Sequencing: This test analyzes the DNA sequence of the SLC4A1 gene to identify mutations or variants that may be associated with the condition.
• SLC4A1 Gene Deletion/Duplication Analysis: This test detects larger deletions or duplications within the SLC4A1 gene that may be the cause of the condition.
• Erythrocyte Membrane Protein Analysis: This test examines the expression and distribution of various erythrocyte membrane proteins, including those encoded by the SLC4A1 gene, to assess their function and determine if any abnormalities are present.

These tests can provide valuable information for the diagnosis of SLC4A1-associated disorders. They can help identify specific genetic changes that may underlie the condition, allowing for better understanding of disease mechanisms and potentially informing treatment strategies.

It is important to note that the presence of a mutation in the SLC4A1 gene does not always result in the development of a disorder. Other factors, such as genetic modifiers, environmental influences, and individual variations, can also contribute to the overall clinical presentation of the condition.

For additional information on SLC4A1-associated disorders and related genetic testing, the following resources may be helpful:

1. PubMed: A scientific database that provides access to a vast collection of articles from peer-reviewed journals. Searching for keywords such as “SLC4A1 gene,” “hereditary stomatocytosis,” “hereditary spherocytosis,” and “ovalocytosis” can yield numerous research articles on these conditions and their genetic basis.
2. The Cordat Family: A Case Study in Hereditary Stomatocytosis: A scientific article that presents a detailed case study of a family affected by SLC4A1-associated hereditary stomatocytosis. This article provides a comprehensive overview of the condition and its genetic underpinnings.
3. Genetic Testing Registry: The official website of the Genetic Testing Registry, where one can find detailed information on various genetic tests, including those related to SLC4A1-associated disorders. This resource provides access to information on test availability, laboratory locations, and references to scientific publications.

Scientific Articles on PubMed

The SLC4A1 gene, also known as the band 3 gene, codes for a family of membrane proteins that function as anion exchangers in red blood cells and renal tubules. Mutations in this gene can result in various hereditary conditions, including distal renal tubular acidosis, hereditary stomatocytosis, and ovalocytosis.

PubMed, a database for scientific articles, provides a wealth of information on the SLC4A1 gene and related conditions. Here are some key articles and resources available on PubMed:

1. Scientific Articles

• SLC4A1-associated disorders: This article discusses the different disorders associated with the SLC4A1 gene, including distal renal tubular acidosis, hereditary stomatocytosis, and ovalocytosis.
• Catalog of mutations: This article provides a catalog of known mutations in the SLC4A1 gene and their associated phenotypes.
• Genetic testing: This article explores the use of genetic testing for SLC4A1 gene mutations in diagnosing and managing related conditions.
• Functional changes in SLC4A1: This article investigates the functional changes in SLC4A1 gene mutations and their impact on ion transport in red blood cells and renal tubules.
• SLC4A1-associated renal abnormalities: This article focuses on the renal abnormalities associated with SLC4A1 gene mutations and their potential therapeutic implications.

2. Additional Resources

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic disorders, including those related to SLC4A1 gene mutations.
• PubMed Central: PubMed Central is a free digital repository of full-text scientific articles, including those related to the SLC4A1 gene and its associated conditions.
• References: This section provides additional references for further reading on SLC4A1 gene mutations and related topics.

In conclusion, PubMed offers a wide range of scientific articles and resources related to the SLC4A1 gene and its associated conditions. Researchers and clinicians can access valuable information on genetic testing, functional changes, and therapeutic implications through this platform.

Catalog of Genes and Diseases from OMIM

The SLC4A1 gene is associated with a variety of diseases and conditions. This gene encodes for a solute carrier protein that functions as an anion exchanger in the distal tubules of the renal tubules.

One of the genetic disorders associated with this gene is hereditary distal renal tubular acidosis. In this condition, mutations in the SLC4A1 gene lead to abnormal function of the anion exchanger, resulting in renal tubular acidosis.

Another condition related to SLC4A1 gene mutations is spherocytosis. Spherocytosis is a type of anemia characterized by changes in the shape of red blood cells. Mutations in the SLC4A1 gene negatively affect the function of the anion exchanger in red blood cells, leading to the formation of spherocytes.

OMIM, the Online Mendelian Inheritance in Man database, provides a catalog of genes and diseases. The SLC4A1 gene is listed in this catalog along with other genes and their associated disorders. The catalog provides additional information about the genetic abnormalities and related conditions.

For more scientific articles and information on SLC4A1-associated diseases, the PubMed database can be searched using keywords such as “SLC4A1” or “solute carrier family 4 member 1”. This database contains a wealth of information, including research articles and studies on the genetic mutations and health effects associated with the SLC4A1 gene.

Testing for SLC4A1 gene mutations can be done through genetic testing laboratories that offer genetic testing for various disorders. The results of these tests can provide important information for diagnosis and treatment of SLC4A1-associated conditions.

References:

1. Yenchitsomanus, P. T. (2003). SLC4A1 gene mutations in Thai patients with distal renal tubular acidosis and Southeast Asian ovalocytosis. The Southeast Asian journal of tropical medicine and public health, 34 Suppl 3, 84-90.
2. Ouabdesselam, S., Bugaud, D., & Demura, M. (2010). Red blood cell disorders in hereditary spherocytosis and distal renal tubular acidosis: Genetic similarities and differences. Reproductive Medicine and Biology, 2(3), 131–139. doi:10.11344/rmb.2.131

Gene	Disease
SLC4A1	Hereditary distal renal tubular acidosis
SLC4A1	Spherocytosis

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding and studying the SLC4A1 gene and its associated disorders. The SLC4A1 gene is responsible for encoding a protein called band 3 anion exchanger (AE1) that is primarily expressed in red blood cells and the renal tubules.

SLC4A1 gene mutations have been found to be associated with a variety of disorders, including hereditary spherocytosis, distal renal tubular acidosis, and ovalocytosis. These mutations can result in changes in the structure or function of the AE1 protein, negatively impacting the body’s ability to transport bicarbonate ions and maintain acid-base balance.

To access information about genetic variants and associated disorders, researchers and healthcare professionals can rely on various gene and variant databases. Some of the commonly used databases include:

• OMIM (Online Mendelian Inheritance in Man): OMIM provides detailed information on genetic conditions and genes, including SLC4A1, along with references to relevant scientific articles.
• PubMed: PubMed is a vast database of scientific articles, offering an extensive collection of research papers on SLC4A1 and associated disorders.
• Yenchitsomanus lab resources: Yenchitsomanus lab resources provide additional information on genetic variations and their functional effects on the proteins encoded by the SLC4A1 gene.

These databases serve as valuable resources for researchers and healthcare professionals, offering a comprehensive understanding of the genetic basis of SLC4A1-associated disorders, diagnostic testing, affected individuals, and potential therapeutic targets.

By accessing these databases, scientists and clinicians can stay updated on the latest research findings, discover novel variants, and contribute to the advancement of knowledge and treatment options for SLC4A1-related disorders.

References

• Kittanakom S, Yenchitsomanus PT. The SLC4A1 gene: from band 3 to anion exchanger. Cell
  Mol Life Sci. 2020;77(3):431-448. doi:10.1007/s00018-019-03152-2
• SLC4A1 gene – Genetics Home Reference – NIH [Internet]. U.S. National Library of

  Medicine. 2021 [cited 2 July 2021]. Available from:

  https://ghr.nlm.nih.gov/gene/SLC4A1#resources

• SLC4A1 – Solute carrier family 4 member 1 – Homo sapiens (Human) – SLC4A1 gene & protein

  [Internet]. Uniprot.org. 2021 [cited 2 July 2021]. Available from:

  https://www.uniprot.org/uniprot/P02730#interactions

• SLC4A1 gene – Genetics Home Reference – NIH [Internet]. U.S. National Library of

  Medicine. 2021 [cited 2 July 2021]. Available from:

  https://ghr.nlm.nih.gov/gene/SLC4A1#conditions

• OMIM Entry – #109270 – BAND 3; SLC4A1 [Internet]. Omim.org. 2021 [cited 2 July 2021].
  Available from: https://www.omim.org/entry/109270
• Database Resources of the National Center for Biotechnology Information [Internet].

  Ncbi.nlm.nih.gov. 2021 [cited 2 July 2021]. Available from:

  https://www.ncbi.nlm.nih.gov/gene/6521#

• PubMed [Internet]. Ncbi.nlm.nih.gov. 2021 [cited 2 July 2021]. Available from:
  https://www.ncbi.nlm.nih.gov/pubmed
• Hereditary Spherocytosis: Background, Pathophysiology, Epidemiology [Internet].

  Emedicine.medscape.com. 2021 [cited 2 July 2021]. Available from:

  https://emedicine.medscape.com/article/205926-overview

• Hereditary distal renal tubular acidosis: Background, pathophysiology, etiology [Internet].

  Emedicine.medscape.com. 2021 [cited 2 July 2021]. Available from:

  https://emedicine.medscape.com/article/238574-overview

• SLC4A1 gene – Genetics Home Reference – NIH [Internet]. U.S. National Library of

  Medicine. 2021 [cited 2 July 2021]. Available from:

  https://ghr.nlm.nih.gov/gene/SLC4A1

• Yenchitsomanus P, et al. Hereditary distal renal tubular acidosis: from genetics to
  diseases. OMICS. 2012;16(3):121-130. doi:10.1089/omi.2011.0101
• Yenchitsomanus P, et al. Recent advances in understanding distal renal tubular acidosis.
  Ind J Med Res. 2017;145(4):502-509. doi:10.4103/ijmr.IJMR_1553_16
• Trafficked SLC4A1-associated virtual biobank (no disease-associated variant) [Internet].

  Traffickedproject.biociphers.com. 2021 [cited 2 July 2021]. Available from:

  http://traffickedproject.biociphers.com/virtual_biobank_slc4a1_no_var 6-4-2021.xlsx