DISEASES

Disease-gene associations mined from literature

Literature associating RFX6 and annular pancreas

RFX6 [ENSP00000332208]

Regulatory factor X domain-containing protein 1; Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide- producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes. Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription.

Synonyms:  RFX6,  RFX6p,  hRFX6,  Q8HWS3,  Q8HWS3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM