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.
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Protein Aliases: achaete scute protein; achaete-scute complex homolog 1; achaete-scute complex-like 1; Achaete-scute homolog 1; ASCL1; ASH-1; ASH1; BHLHA46; Class A basic helix-loop-helix protein 46; HASH1
Gene Aliases: ASCL1; ASH1; BHLHA46; HASH1; MASH1
UniProt ID: (Human) P50553
Entrez Gene ID: (Human) 429