RFX6

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Regulatory factor X, 6
Identifiers
Symbols RFX6 ; MTFS; RFXDC1; dJ955L16.1
External IDs OMIM612659 HomoloGene18318 GeneCards: RFX6 Gene
Orthologs
Species Human Mouse
Entrez 222546 320995
Ensembl ENSG00000185002 ENSMUSG00000019900
UniProt Q8HWS3 Q8C7R7
RefSeq (mRNA) NM_173560 NM_001159389
RefSeq (protein) NP_775831 NP_001152861
Location (UCSC) Chr 6:
117.2 – 117.25 Mb
Chr 10:
51.68 – 51.73 Mb
PubMed search [1] [2]

Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.[1]

Function[edit]

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes.

Clinical significance[edit]

Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[1]

References[edit]

  1. ^ a b "Entrez Gene: Regulatory factor X, 6". Retrieved 2012-02-10. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.