RFX6

RFX6
Identifiers
Aliases RFX6, MTCHRS, MTFS, RFXDC1, dJ955L16.1, regulatory factor X6
External IDs MGI: 2445208 HomoloGene: 18318 GeneCards: RFX6
Orthologs
Species Human Mouse
Entrez

222546

320995

Ensembl

ENSG00000185002

ENSMUSG00000019900

UniProt

Q8HWS3

Q8C7R7

RefSeq (mRNA)

NM_173560

NM_001159389
NM_177306

RefSeq (protein)

NP_775831.2

NP_001152861.1
NP_796280.1

Location (UCSC) Chr 6: 116.88 – 116.93 Mb Chr 10: 51.68 – 51.73 Mb
PubMed search [1] [2]
Wikidata
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Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.[3]

Function

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

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.[3]

References

Further reading

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

This article is issued from Wikipedia - version of the 6/10/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.