ASCL1, Official Symbol ASCL1provided by HGNC Official Full Name achaete-scute family bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:738 See related Ensembl:ENSG00000139352 MIM:100790; AllianceGenome:HGNC:738 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 ASH1; HASH1; MASH1; bHLHa46 Summary 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] Expression Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue See more Orthologs mouse all