Gene: ASCL1

Alternate names for this Gene: ASH1|HASH1|MASH1|bHLHa46

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.2

Description of this Gene: achaete-scute family bHLH transcription factor 1

Type of Gene: protein-coding

rs17450122 in ASCL1 gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs17450122 in ASCL1 gene and blood phenylalanine measurement by Guthrie microbiologic assay PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.