ASCL1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolASCL1
Nameachaete-scute family bHLH transcription factor 1
Typeprotein-coding
Sourcemygene

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

116Connections

This is an externally resolved entity

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