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ASCL1

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For Research Use Only. Not For Clinical Use.


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.
Protein class

Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Group enriched (Oligodendrocyte precursor cells, Enteroendocrine cells, Astrocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (SCLC-21H, SH-SY5Y)

Interaction

Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.

Molecular function

Activator, Developmental protein, DNA-binding

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