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    HTC2 hypertrichosis 2 (generalized, congenital) [ Homo sapiens (human) ]

    Gene ID: 3342, updated on 31-Aug-2024

    Summary

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    Official Symbol
    HTC2provided by HGNC
    Official Full Name
    hypertrichosis 2 (generalized, congenital)provided by HGNC
    Primary source
    MIM:307150
    Gene type
    unknown
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGH; HCG; CXINSq27.1

    Genomic context

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    Location:
    Xq27.1

    Bibliography

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    Related articles in PubMed

    1. Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait. Tadin-Strapps M, et al. Clin Genet, 2003 May. PMID 12752576
    2. X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Zhu H, et al. Am J Hum Genet, 2011 Jun 10. PMID 21636067, Free PMC Article
    3. Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. DeStefano GM, et al. Proc Natl Acad Sci U S A, 2013 May 7. PMID 23603273, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Associated conditions

    Description Tests
    hypertrichosis 2 (generalized, congenital)
    OMIM: 307150GeneReviews: Not available

    General gene information

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    Other Names

    • hypertrichosis 2 (generalised, congenital)

    Property

    • phenotype only

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