ASCL1 Antibody – Rabbit Polyclonal

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]

ASCL1: Transcriptional regulator. May play a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Involved in the initiation of neuronal differentiation. Mediates transcription activation by binding to the E box (5'-CANNTG-3').

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 12q23.2

Cellular Component: cell soma; nucleus

Molecular Function: protein binding; protein homodimerization activity; DNA binding; double-stranded DNA binding; bHLH transcription factor binding; chromatin binding; transcription factor activity

Biological Process: vestibular nucleus development; response to lithium ion; musculoskeletal movement, spinal reflex action; regulation of mitotic cell cycle; cell maturation; olfactory pit development; neuron migration; neuroblast fate determination; negative regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; positive regulation of neuron apoptosis; response to folic acid; neuron fate specification; oligodendrocyte development; positive regulation of Notch signaling pathway; central nervous system neuron development; Notch signaling pathway; response to retinoic acid; transcription, DNA-dependent; spinal cord oligodendrocyte cell fate specification; regulation of timing of subpallium neuron differentiation; positive regulation of cell cycle; cerebral cortex GABAergic interneuron differentiation; negative regulation of neuron differentiation; neurogenesis; commitment of a neuronal cell to a specific type of neuron in the forebrain; subpallium neuron fate commitment; regulation of gene expression; regulation of epithelial cell differentiation; neuroblast proliferation; spinal cord association neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; cerebral cortex development; negative regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; negative regulation of apoptosis

Disease: Central Hypoventilation Syndrome, Congenital