Gene Symbol | BHLHA9 |
Entrez Gene ID | 727857 |
Full Name | basic helix-loop-helix family member a9 |
Synonyms | BHLHF42,CCSPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]. |
Disorder MIM: | |
Disorder Html: | Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3); ?Camptosynpolydactyly, complex, 607539 (3) |