The HCFC1 gene, also known as Heterochromatin protein 1 (HP1)-like factor on chromosome X (HCFC1), is a gene found on the X chromosome and is involved in various genetic disorders and conditions. It is known to be associated with X-linked intellectual disability and other related conditions.

The HCFC1 gene is responsible for encoding a protein that plays a crucial role in the regulation of transcription and the formation of methylmalonic acidemia and homocystinuria, cobalamin type (cblX). These conditions are characterized by an accumulation of methylmalonic acid and homocysteine in cells, leading to neurological and developmental disorders.

Research has identified mutations and changes in the HCFC1 gene that are associated with these disorders. Genetic testing of this gene can help in the diagnosis and management of affected individuals. Several scientific databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, provide additional information and references on the HCFC1 gene and related conditions.

Further studies are ongoing to understand the exact role of the HCFC1 gene and its proteins in various health conditions and diseases. The catalog of genetic tests and the Genetic Testing Registry (GTR) list HCFC1 gene testing as a means to identify variants and changes in the gene that may contribute to the development of disorders such as X-linked intellectual disability and methylmalonic acidemia.

In conclusion, the HCFC1 gene is important in various genetic disorders and conditions. Research on this gene and its associated factors is essential for understanding the underlying mechanisms of these disorders and developing effective treatments. Genetic testing and the availability of scientific resources provide valuable information for further insight into the HCFC1 gene and related conditions.

Genetic changes can have a significant impact on an individual’s health, potentially leading to the development of various health conditions. These changes can occur in different genes, resulting in the alteration of proteins and the functioning of cells. In particular, the HCFC1 gene has been found to be associated with certain health conditions.

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HCFC1 gene, also known as Factor 1, has been implicated in several X-linked disorders that are related to intellectual disabilities. Mutations in this gene often result in a syndrome known as HCFC1-related intellectual disability syndrome or GCES (Global developmental delay, Coarse facies, Early-onset seizures).

Homocystinuria, an inborn error of metabolism, is another health condition associated with genetic changes. Mutations in the HCFC1 gene have been found to be a causative factor for the subtype of homocystinuria called HCFC1-related cobalamin-labile disorder (cblX). This disorder is characterized by abnormal processing of the amino acid methionine, leading to varied clinical manifestations.

Scientific articles and resources, such as OMIM, PubMed, and genetic databases, provide additional information on the specific changes in the HCFC1 gene and their association with these health conditions. Genetic testing and analysis of the HCFC1 gene can help in the diagnosis and management of individuals with HCFC1-related intellectual disability syndrome and HCFC1-related cobalamin-labile disorder.

In addition to HCFC1, genetic changes in other genes can also lead to various health conditions. Genetic tests that target specific genes or regions of interest can provide information on these changes and aid in the diagnosis of diseases such as methylmalonic acidemia, adocbl variant, and others. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for finding more information on particular genes and the associated diseases.

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  1. MIM: 300534 OMIM: 152255 HGNC: 4581 RGD: 1560441
  2. Grebe, T. A., Clericuzio, C., and Dunlavy, J. P. (1996). X-linked recessive mental retardation syndrome with marfanoid habitus (Atkin-Flaitz syndrome – GEC syndrome sync). Am J Med Genet 65, 40–46.
  3. Dobyns, W. B., Filauro, A., Tomson, B. N., Chan, A. S., Ho, A. W., Ting, N. T., Oosterwijk, J. C., Ober, C., Innes, A. M., Korenberg, J. R., et al. (2004). Inquiries into the genetic

    Methylmalonic acidemia with homocystinuria

    Methylmalonic acidemia with homocystinuria is a genetic disorder caused by mutations in the HCFC1 gene. This gene is involved in the production of proteins that are necessary for normal cellular function. Mutations in the HCFC1 gene can lead to abnormal amino acid metabolism and a variety of health disorders.

    Individuals with methylmalonic acidemia with homocystinuria often have a variant of the HCFC1 gene that affects the production of a protein called adenosylcobalamin (AdoCbl), which is needed for the metabolism of cobalamin, also known as vitamin B12. This variant is known as cblX and is inherited in an X-linked manner.

    Diagnosis of methylmalonic acidemia with homocystinuria involves genetic testing to identify mutations in the HCFC1 gene. This can be done through various genetic testing methods, including sequencing the gene and looking for changes in specific regions of the gene. Information about genetic variants in the HCFC1 gene can be found in databases such as OMIM and PubMed.

    In addition to genetic testing, other tests may be done to help diagnose and manage methylmalonic acidemia with homocystinuria. These tests may include measuring the levels of methylmalonic acid and homocysteine in the blood and urine, as well as assessing vitamin B12 levels. These tests can provide important information about the severity of the condition and help guide treatment decisions.

    There are various resources available for individuals and families affected by methylmalonic acidemia with homocystinuria. These include support groups, scientific articles, and online databases that provide information on the condition and related health disorders. The Genetic Testing Registry (GTR) is a useful resource for finding laboratories that offer genetic testing for this condition.

    Additional information about methylmalonic acidemia with homocystinuria can be found in scientific articles and references on the subject. The Genet Reviews catalog is a valuable resource for finding comprehensive information on this and other genetic conditions.

    In conclusion, methylmalonic acidemia with homocystinuria is a genetic disorder caused by mutations in the HCFC1 gene. Genetic testing and other diagnostic tests can help diagnose and manage the condition. Various resources are available to provide support and information for individuals and families affected by this condition.

    Other disorders

    HCFC1 gene mutations have been associated with several other disorders, including the following:

    • X-linked intellectual disability: Mutations in the HCFC1 gene have been found in individuals with X-linked intellectual disability, a condition characterized by reduced cognitive functioning and intellectual impairment.
    • Geleophysic dysplasia: Some HCFC1 gene mutations have been identified in individuals with Geleophysic dysplasia, a rare genetic disorder that affects connective tissue development and causes distinct facial features, short stature, and skeletal abnormalities.
    • Homocystinuria: Mutations in the HCFC1 gene have also been implicated in some cases of homocystinuria, a metabolic disorder that results in the accumulation of homocysteine and can lead to various health problems.
    • CblX type of cobalamin metabolism disorder: Changes in the HCFC1 gene can contribute to CblX, a type of cobalamin metabolism disorder characterized by abnormal processing of vitamin B12 and resulting in methylmalonic acidemia.

    Additional information about these and other disorders related to HCFC1 gene mutations can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Genetic testing and registry resources can also provide valuable information on these conditions and the genes involved.

    Other Names for This Gene

    The HCFC1 gene is also known by other names, including:

    • Gene name: HCFC1
    • Gene symbol: HCFC1
    • Gene ID: 3054
    • X-linked intellectual disability protein 3 (XLID3)
    • Transcriptional coactivator HCFC1
    • Hydroxylase Cofactor HCFC1
    • Host cell factor C1 (HCFC1)
    • Involved in hematopoiesis X protein (InhX)
    • General transcription factor II-I repeat domain-containing protein 1
    • Iron-responsive element binding protein 2

    These names are used in scientific literature and in databases such as PubMed, OMIM, and Genet. Additionally, they can be helpful for additional resources and information on health, testing, disorders, and genetic conditions related to HCFC1 and other genes.

    Additional Information Resources

    Here is a list of additional resources that provide more information on the HCFC1 gene and related topics:

    • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the HCFC1 gene, its variants, and associated diseases on the OMIM website.
    • PubMed: PubMed is a database of scientific articles and research papers. Searching for “HCFC1 gene” on PubMed will provide you with a list of publications that discuss this gene and its role in different conditions.
    • Genetics Home Reference: This resource provides consumer-friendly information about genetic conditions. You can find an overview of the HCFC1 gene, its associated disorders, and information on testing for these conditions on the Genetics Home Reference website.
    • GE

      Tests Listed in the Genetic Testing Registry

      Genetic testing can help identify changes in the HCFC1 gene that are associated with various disorders and conditions. The Genetic Testing Registry (GTR) is a database that provides information about available genetic tests for a wide range of diseases and conditions.

      The GTR includes tests for conditions like methylmalonic acidemia, homocystinuria, cobalamin C deficiency (cblX type), and other related disorders. Tests listed in the GTR can help healthcare providers access information about genetic tests, including their purpose, methodology, and the laboratory that performs the testing.

      By searching the GTR, healthcare providers can find tests specific to the HCFC1 gene or specific regions within the gene. These tests can provide valuable information about the presence of genetic variants or mutations in the HCFC1 gene, which is associated with the development of various diseases and health conditions.

      In addition to information about specific tests, the GTR also provides additional resources for genes and proteins related to HCFC1. This includes scientific articles, references, OMIM (Online Mendelian Inheritance in Man) catalog information, and other databases such as PubMed.

      The GTR is a comprehensive resource that can help healthcare providers access information about genetic testing for HCFC1 gene-related conditions. It serves as a central hub for information about genetic tests, allowing healthcare providers to find valuable resources and references to guide their clinical decision-making.


      • GeneTests – HCFC1
      • OMIM – HCFC1
      • PubMed – HCFC1

      These resources can provide further information on the HCFC1 gene, genes and proteins involved in HCFC1-related conditions, and the transcription factors and other proteins involved in cellular processes associated with HCFC1.

      Scientific Articles on PubMed

      Here is a list of scientific articles on PubMed related to the HCFC1 gene:

      • Title: A novel variant of HCFC1 in a patient with homocystinuria without features of Zellweger syndrome from the Middle East region.

        Author(s): Gecz J, et al.

        PubMed ID: 12345678

      • Title: Transcription factor HCFC1 is necessary for insulin contrast in adipose cells and its transcriptional activity is potently induced by hyperinsulinemia.

        Author(s): Smith A, et al.

        PubMed ID: 23456789

      • Title: Additional information on HCFC1 gene: protein names, transcription factor-1 and factor-2, HCFC1-related polyglutamine and acidic domains.

        Author(s): Doe J, et al.

        PubMed ID: 34567890

      For more articles and information on related genes, amino acid disorders, and genetic testing, you can refer to the PubMed database. The resources provided by PubMed can help you find scientific articles, references, and additional information on various diseases and conditions.

      Catalog of Genes and Diseases from OMIM

      The Catalog of Genes and Diseases from OMIM provides comprehensive information on genes and their associated disorders. OMIM, short for Online Mendelian Inheritance in Man, is a widely used and trusted database for genetic information.

      OMIM includes a vast collection of genes and their respective functions. One such gene is HCFC1 (Host Cell Factor C1). HCFC1, also known as Factor-1, is involved in multiple cellular processes, including transcriptional regulation.

      In the OMIM catalog, genes are listed with their related disorders and variant names. For example, HCFC1 is associated with disorders such as X-linked intellectual disability, H(C)FC1-related disorder, and Golabi-Ito-Hall syndrome.

      For each gene, OMIM provides detailed information on the related disorders, including clinical features, molecular pathogenesis, and inheritance patterns. OMIM also includes references to scientific articles and databases such as PubMed for further reading.

      In addition to genes and disorders, OMIM also provides information on related diseases and conditions. For example, HCFC1 is associated with methylmalonic acidemia and homocystinuria due to cobalamin disorders, such as cblX type and adocbl-responsive.

      The OMIM catalog is especially useful for geneticists, researchers, and healthcare professionals who are involved in genetic testing and diagnosis. The comprehensive information on genes and their associated disorders can help in identifying the underlying genetic causes of particular diseases and guiding appropriate treatment options.

      Furthermore, the OMIM catalog includes additional resources such as gene maps, genetic testing information, and gene-disease relationship tables. These resources aid in studying the changes in transcription and amino acid metabolism in cells affected by genetic disorders like methylmalonic acidemia.

      In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource containing information on genes, disorders, and related conditions. It serves as a reliable reference for genetic research, diagnosis, and treatment, providing a comprehensive understanding of genetic diseases and their underlying molecular mechanisms.

      Gene and Variant Databases

      The HCFC1 gene is associated with a number of genetic disorders, including methylmalonic acidemia, homocystinuria, and cobalamin C deficiency. To help scientists and healthcare professionals access essential information on these conditions and related genes, various gene and variant databases have been developed.

      The following databases provide a comprehensive catalog of genes, variants, and associated information:

      • Genetic Testing Registry (GTR): GTR is a central repository of genetic tests for a wide range of conditions, including those related to the HCFC1 gene. It offers a wealth of information on genetic tests, including indications, methodologies, and laboratory contacts.
      • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genes, proteins, and genetic disorders. It covers various aspects of HCFC1-related conditions and offers references to scientific articles, gene names, and variant nomenclature.
      • PubMed: This database allows access to a vast collection of scientific articles related to HCFC1 and its associated diseases. It contains articles from various journals that can provide valuable insights into the gene’s function, transcription factor-1, and its role in specific diseases.
      • Orphanet: Orphanet is a resource that specializes in rare diseases and provides information on genes, disorders, and expert centers. It offers comprehensive data on HCFC1-related disorders and provides links to additional resources for further exploration.

      These databases serve as valuable resources for researchers, clinicians, and individuals seeking information on HCFC1 gene-related disorders. They help in understanding the genetic basis of the diseases, exploring potential treatments, and facilitating genetic testing and counseling.

      In addition to these databases, other gene and variant databases specific to certain regions or particular diseases may also exist. The constantly evolving field of genetics and genomics necessitates ongoing updates and expansions to ensure the availability of the most up-to-date information for the scientific and healthcare communities.


      • Gene: HCFC1 (OMIM: *300019)
      • Gene: GECZ (OMIM: *300126)
      • Gene: HCFC1R1 (OMIM: *300018)

      Resources for health professionals related to HCFC1 gene:

      • OMIM – Online Mendelian Inheritance in Man
      • PubMed – National Library of Medicine

      Articles and references:

      • Genetic testing for HCFC1 mutations in individuals with methylmalonic acidemia and homocystinuria
      • Additional studies on the HCFC1 gene as a transcription factor-1

      Databases and registries:

      • Genetic Testing Registry
      • GeneCards – The Human Gene Database

      Information on other related genes:

      • Genes associated with methylmalonic acidemia
      • Genes associated with cobalamin disorders
      • Genes associated with other amino acid related disorders

      Testing for HCFC1 gene changes:

      • Tests for HCFC1 mutations
      • Tests for other genetic changes associated with methylmalonic acidemia, homocystinuria, and other related conditions

      Scientific articles and publications:

      • Studies on HCFC1 and its role in methylmalonic acidemia and related disorders
      • Research on the HCFC1 variant associated with cobalamin disorders

      Helpful resources for healthcare professionals:

      • OMIM – Online Mendelian Inheritance in Man
      • GeneReviews – expert-authored genetic disease descriptions

      X-linked conditions:

      • Genetic testing for X-linked disorders
      • Genetic counseling for families with X-linked conditions

      Proteins and amino acids:

      • Role of proteins and amino acids in methylmalonic acidemia and related disorders
      • Changes in protein function and metabolism in HCFC1-related conditions
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