Aliases for BHLHA9 Gene
External Ids for BHLHA9 Gene
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]
GeneCards Summary for BHLHA9 Gene
BHLHA9 (Basic Helix-Loop-Helix Family, Member A9) is a Protein Coding gene. Diseases associated with BHLHA9 include syndactyly, mesoaxial synostotic, with phalangeal reduction and split-hand/foot malformation with long bone deficiency 1. GO annotations related to this gene include protein dimerization activity.
UniProtKB/Swiss-Prot for BHLHA9 Gene
Putative transcription factor, which may play a role in limb development.