Aliases for BHLHA9 Gene
External Ids for BHLHA9 Gene
Previous GeneCards Identifiers 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 syndactyly. GO annotations related to this gene include protein heterodimerization activity and protein dimerization activity.
UniProtKB/Swiss-Prot for BHLHA9 Gene
Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.