Gene information for ASCL1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 429 |
| Official gene symbol | ASCL1 |
| Full name | achaete-scute complex homolog 1 (Drosophila) |
| Aliases | ,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. [provided by RefSeq] |
| Location | Chromosome: 12 Locus: |
| Gene position | 103351452 - 103354294 Map Viewer |
| OMIM ID | 100790 |
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