BHLHA9 basic helix-loop-helix family member a9 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 727857)
Source: NCBI Gene (ID 727857)
Symbol: BHLHA9
Full name: basic helix-loop-helix family member a9
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: BHLHF42; CCSPD
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
Gene size: 1372bp
Exon count: 1