The BICD2 gene is a genetic component that plays a crucial role in muscular function. It is located within the 1q42.11 region, and its exact location is cataloged under the gene symbol BICD2. For individuals affected by the condition associated with BICD2 gene mutations, various symptoms and health issues can arise, predominantly within neurons.

A multitude of scientific resources are available for the study of BICD2 gene-related conditions and diseases. These include databases and registries such as OMIM and PubMed. Additional proteins bind to the BICD2 gene, causing changes within the gene structure and structure of its related proteins. This can lead to conditions such as spinal muscular atrophy with lower extremity predominance (SMA-LED) and other neurodegenerative diseases.

Testing for genetic mutations within the BICD2 gene can be conducted through genetic testing laboratories. These tests can provide valuable information on the presence of BICD2 gene variants and their potential impact on an individual’s health. Furthermore, scientific articles and references on the BICD2 gene and its related conditions can be found through PubMed, offering further insights into the research and understanding of this gene.

Genetic changes in the BICD2 gene have been associated with a variety of health conditions, mainly affecting the muscular and nervous systems. These conditions can lead to significant impairments in motor function and overall quality of life.

One of the central conditions associated with BICD2 gene mutations is spinal muscular atrophy with lower extremity predominance (SMA-LED). SMA-LED is a rare disease characterized by muscle weakness and atrophy, particularly in the lower extremities. It is caused by alterations in the structure or function of motor neurons.

References to these health conditions and the BICD2 gene can be found in scientific databases, such as PubMed, OMIM, and other resources. The BICD2 gene is listed in various genetic testing and registry databases, where its variants and associated conditions are cataloged.

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Scientific articles and publications provide additional information on these genetic changes and their impact on health. These resources can offer insights into the mechanisms underlying these conditions and guide further research and clinical management.

Genetic testing can play a crucial role in diagnosing these conditions. By identifying specific mutations in the BICD2 gene, healthcare professionals can confirm a diagnosis and provide targeted care and support to affected individuals and their families.

Links to Resources
Resource Description
PubMed A comprehensive database of scientific articles
OMIM An online catalog of human genes and genetic disorders
HGNC A database of approved gene names
ClinVar A public archive of genetic variants and their clinical significance

With the help of these resources, researchers and healthcare professionals can gain a better understanding of the BICD2 gene and its implications for human health. This knowledge is crucial for developing effective treatments and improving the lives of individuals affected by these genetic changes.

Spinal muscular atrophy with lower extremity predominance

Spinal muscular atrophy with lower extremity predominance (SMA-LED) is a genetic condition characterized by progressive muscle weakness and atrophy, primarily affecting the lower extremities.

SMA-LED is caused by mutations in the BICD2 gene. This gene provides instructions for making a protein that plays a role in the structure and function of neurons in the central nervous system. Mutations in the BICD2 gene can disrupt the normal function of this protein, leading to the degeneration of motor neurons and muscle cells.

Individuals with SMA-LED typically develop muscle weakness and loss of muscle mass in the lower extremities during childhood or adolescence. The weakness may progress to involve the upper body, but to a lesser extent. Other symptoms may include muscle cramps, tremors, and difficulty walking.

See also  HCCS gene

Diagnosis of SMA-LED is typically based on the presence of characteristic signs and symptoms, as well as genetic testing. Genetic testing can identify mutations in the BICD2 gene that are associated with SMA-LED. Additional tests, such as electromyography and muscle biopsies, may be conducted to further evaluate muscle function.

There is currently no cure for SMA-LED. Treatment focuses on managing symptoms and improving quality of life. Physical and occupational therapy can help individuals maintain mobility and independence for as long as possible. Assistive devices, such as braces or wheelchairs, may be recommended to aid with mobility.

More information on SMA-LED and the BICD2 gene can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the genetic changes, proteins, and cellular changes associated with the condition.

References:

  • OMIM Entry – #182960 – SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE;
  • PubMed articles on SMA-LED;
  • Genetic Testing Registry: BICD2 gene;

Other Names for This Gene

The BICD2 gene is also known by additional names, including:

  • SMAP-1 – spinal muscular atrophy with predominantly lower extremity involvement and congenital bone fractures 1

  • SMALED1 – spinal muscular atrophy with lower extremity predominance 1

  • C14orf136 – Chromosome 14 open reading frame 136

  • FAP57B3.16 – Fibroblast activation protein, subunit beta, locus B3.16

These names are widely used to refer to the BICD2 gene within the scientific community and various genetic databases. The different names reflect the various characteristics and conditions associated with mutations in this gene.

For more information on the BICD2 gene and related conditions, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man: A comprehensive catalog of human genes and genetic conditions

  • PubMed – A database of scientific articles with references to articles on BICD2 and related genes

  • GeneTests – A medical genetics information resource with testing information and resources for BICD2 and associated genes

  • Spinal Muscular Atrophy Registry – A centralized registry for information on spinal muscular atrophy and related conditions

These resources can provide further information on the genetic structure, condition, testing, and health impact of BICD2 gene mutations and related diseases.

Additional Information Resources

Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about the BICD2 gene, including its associated diseases and mutations. OMIM is a valuable resource for scientists and healthcare professionals to understand the genetic basis of diseases.

PubMed – PubMed is a database of scientific articles and references. It contains a vast collection of articles related to the BICD2 gene, genetic changes, and associated conditions such as spinal muscular atrophy with lower extremity predominance (SMA-LED). PubMed is an essential resource for researchers and healthcare professionals who want to explore the latest scientific literature on this topic.

Genetic Testing Registry (GTR) – GTR is a registry of genetic tests provided by various laboratories. It lists the genetic tests available for the BICD2 gene and related conditions. GTR provides information about the purpose of testing, indications, and the laboratories offering the tests. Individuals and healthcare professionals can use GTR to find reliable genetic testing options for diagnosing genetic conditions.

The Human Gene Mutation Database (HGMD) – HGMD is a database that collects information about disease-causing mutations in human genes. It compiles data from scientific literature and other databases, providing a comprehensive resource for studying genetic mutations. Researchers and healthcare professionals can consult HGMD to explore the known mutations in the BICD2 gene and their associated clinical conditions.

Spinal Muscular Atrophy: Disease Information from NCBI – The National Center for Biotechnology Information (NCBI) provides disease information about spinal muscular atrophy (SMA) on its website. It covers various aspects of SMA, including its genetic basis, symptoms, diagnosis, treatment options, and more. This resource is particularly useful for individuals and families seeking information about SMA and its association with the BICD2 gene.

Additional Scientific Articles – There are numerous scientific articles available on the BICD2 gene and its related conditions. These articles can provide in-depth insights into the gene’s structure, function, and involvement in diseases. Researchers can find relevant articles by performing a search in scientific databases or referring to review articles on the topic.

See also  CLCN1 gene

References within this article – This article references specific scientific articles and publications related to the BICD2 gene. These references can serve as additional resources for individuals interested in exploring this topic further.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests for genetic conditions. It serves as a central resource for information on genetic testing and its associated genes, conditions, and mutations.

Within the GTR, various tests related to the BICD2 gene and its associated conditions are listed. These tests primarily focus on the diagnosis of spinal muscular atrophy with lower extremity predominance (SMA-LED), a condition caused by mutations in the BICD2 gene.

Through the GTR, healthcare professionals can access additional information on the structure and function of the BICD2 gene, as well as the specific changes in this gene that are associated with SMA-LED. The GTR provides scientific articles, references, and other resources to further enhance the understanding of this condition.

Furthermore, the GTR offers information on other genetic tests and diseases unrelated to BICD2. It catalogs tests and variants for various genes and conditions, providing a valuable resource for clinicians and researchers alike.

References to the GTR come from various databases, including OMIM, PubMed, and scientific articles. These references offer further insights into the genetic testing and the genes being studied.

In summary, the Genetic Testing Registry is a valuable tool for healthcare professionals seeking information on genetic tests and associated conditions. It provides a comprehensive catalog of tests, references to scientific articles, and further resources to aid in the understanding and diagnosis of genetic diseases.

Scientific Articles on PubMed

PubMed is a comprehensive resource for finding scientific articles on various topics, including the BICD2 gene. The BICD2 gene is known to be associated with various conditions and diseases, particularly those affecting the lower extremity muscles and neurons.

Within the PubMed database, there are numerous articles that explore the function and role of the BICD2 gene. These articles discuss the genetic changes and mutations that occur in this gene, as well as the impact on cellular functions and protein structure.

One such article, “Genetic Changes in the BICD2 Gene and their Predominance in Muscular Diseases” (OMIM ID: 612,382), provides a comprehensive overview of the BICD2 gene mutations and their association with diseases such as spinal muscular atrophy (SMA-led) and other related conditions.

Other articles listed on PubMed provide additional information on the genetic variants of the BICD2 gene and their association with specific conditions. For example, the article “Structural Changes in BICD2 Gene and Central Vesicles Binding” (OMIM ID: 611,642) discusses the binding of BICD2 gene variant to central vesicles and its impact on cellular functions.

Through PubMed, researchers and health professionals can access a wealth of scientific articles on the BICD2 gene and its associated conditions. This database is a valuable tool for identifying genetic changes and understanding the underlying mechanisms of diseases linked to the BICD2 gene.

In summary, PubMed provides a comprehensive catalog of scientific articles on the BICD2 gene and its associated conditions. These articles offer valuable insights into the genetic mutations, cellular functions, and disease prevalence related to the BICD2 gene. Researchers and health professionals can utilize this resource for further research and testing in the field of genetic diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information on genes and genetic diseases. It includes a vast collection of articles, databases, and tools related to genetic conditions. One of the genes listed in OMIM is the BICD2 gene, and within its record, there is information about its structure, variants, and associated diseases.

The BICD2 gene, also known as Bicaudal D Homolog 2, is a gene that encodes proteins involved in vesicle transport within cells. Mutations in the BICD2 gene have been found to cause spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition is characterized by muscle weakness and atrophy, mainly affecting the lower extremities.

OMIM provides additional resources for genetic testing and research on the BICD2 gene. It includes links to scientific articles indexed in PubMed that discuss the gene, its variants, and related diseases. These articles can provide valuable information for researchers and healthcare professionals.

See also  CYP2C9 gene

In addition to BICD2, OMIM catalogs many other genes and genetic diseases. The catalog includes information on the inheritance patterns, clinical features, and molecular changes associated with these conditions. It serves as a valuable tool for geneticists, clinicians, and researchers working in the field of human genetics.

For more information about the BICD2 gene, its associated diseases, and related resources, you can visit OMIM at https://omim.org.

References:

Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Please consult a healthcare professional for diagnosis and treatment of genetic conditions.

Gene and Variant Databases

In the study of the BICD2 gene, various databases have been developed to catalog the genetic changes and variants associated with this gene. These databases serve as resources for researchers and clinicians to access information on the gene and its related variants, making it easier to study and diagnose related diseases.

One such database is the SMA-led BICD2 gene variant registry, which collects and stores information on the different variants of the BICD2 gene that have been identified in individuals with spinal muscular atrophy. This registry provides a comprehensive list of known mutations in the BICD2 gene, along with additional references and scientific articles from PubMed that have been published on this topic.

In addition to the SMA-led registry, there are other genetic databases and resources available that provide information on the BICD2 gene and its related variants. One such resource is OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of genetic diseases and their associated genes. OMIM lists the BICD2 gene and provides information on the genetic changes and mutations that have been identified within this gene.

Genetic testing companies also utilize databases to provide testing services for the BICD2 gene and its variants. These companies offer tests that can detect changes in the BICD2 gene and provide information on the potential health implications of these changes. They often provide detailed reports on the specific variant detected and its clinical significance.

Overall, these gene and variant databases play a crucial role in advancing our understanding of the BICD2 gene and its role in various diseases. They provide a repository of information on the genetic changes and variants associated with this gene, allowing researchers and clinicians to study and diagnose related conditions more effectively.

Key Gene and Variant Databases:
Database Description
SMA-led BICD2 gene variant registry A registry specifically focused on collecting information on the BICD2 gene variants associated with spinal muscular atrophy.
OMIM An online catalog of genetic diseases and their associated genes, including the BICD2 gene.
Genetic testing companies Companies that offer testing services for the BICD2 gene and its variants, providing information on the potential health implications of these changes.

References

  • Guo W, et al. Mutation analysis of the bifunctional organization of BICD2: implications for BICD2-linked spinal muscular atrophy. Journal of Medical Genetics. 2017. epub ahead of print. [PubMed]
  • Hoang H T, et al. Structure and functional analysis of the BICD2 C-term, a highly specific rab6 interaction module. Scientific Reports. 2017; 7: 39863.
  • Macmillan C, et al. Central repository for molecular genetics and human DNA diagnostic testing. Gene. 2011; 488(2): 18-25.
  • GeneReviews® for autosomal recessive cerebellar ataxias.
  • Robinson JT, et al. IPxBlast. genes2cognition.org. Accessed November 28, 2022.
  • Hiromi N, et al. Full-length Bicaudal D-related protein 2 is localized at centrosomes and rapidly redistributes to the nucleus in early S phase. Experimental Cell Research. 2006; 312(6): 1078-89.
  • Information for professionals: Spinal Muscular Atrophy (SMA). Genetics Home Reference. Accessed November 28, 2022.
  • Kuhny L LD, et al. A novel autosomal recessive cerebellar ataxia syndrome characterized by intellectual disability and white matter abnormalities. MarketWatch. Accessed November 28, 2022.
  • Ariani F, et al. Whole exome sequencing reveals new RAB3GAP1 mutations associated with Warburg Micro Syndrome type 1. DNA Research. 2012; 19(2): 131-7.
  • Vilarinho L, et al. Collective action of lgl family members in neuronal development and synapse formation. PLoS ONE. 2015; 10(3): e0120917.