This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases.
Synonyms
ASH1; bHLHa46; HASH1; MASH1
Reference Data
Protein Categories
Growth Factors, Intracellular Proteins, Nervous system Diseases, Transciption Factors
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