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. [provided by RefSeq, Jul 2008]
Function
DNA binding; E-box binding; bHLH transcription factor binding; double-stranded DNA binding; protein binding; protein homodimerization activity; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; transcription facto
Synonyms
ASCL1; achaete-scute family bHLH transcription factor 1; ASH1; HASH1; MASH1; bHLHa46; achaete-scute homolog 1; ASH-1; achaete scute protein; achaete-scute complex-like 1; achaete-scute complex homolog 1; class A basic helix-loop-helix protein 46;
Citations
Publication ()
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