BHLHA9, Official Symbol BHLHA9provided by HGNC Official Full Name basic helix-loop-helix family member a9provided by HGNC Primary source HGNC:HGNC:35126 See related Ensembl:ENSG00000205899 MIM:615416; AllianceGenome:HGNC:35126 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCSPD; BHLHF42 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] Orthologs mouse all