Disease-gene associations mined from literature

Literature associating ASCL1 and familial medullary thyroid carcinoma

ASCL1 [ENSP00000266744]

Achaete-scute family bHLH transcription factor 1; Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. 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. Essential for the generation of olfactory and autonomic neurons. 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; Basic helix-loop-helix proteins

Synonyms:  ASCL1,  ASCL1p,  hASCL1,  P50553,  ASH1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM