ASCL1 gene

achaete-scute family bHLH transcription factor 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcription factor that controls transcriptional expression of its target genes by binding to the E box (5'-CANNTG-3'). Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Essential for the generation of olfactory and autonomic neurons.

Cytogenetic Location: 12q23.2, which is the long (q) arm of chromosome 12 at position 23.2

Molecular Location: base pairs 102,957,674 to 102,960,516 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q23.2, which is the long (q) arm of chromosome 12 at position 23.2
  • ASH1
  • bHLHa46
  • HASH1
  • MASH1