RFX6

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RFX6
Identifiers
AliasesRFX6, MTCHRS, MTFS, RFXDC1, dJ955L16.1, regulatory factor X6
External IDsMGI: 2445208 HomoloGene: 18318 GeneCards: RFX6
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for RFX6
Genomic location for RFX6
Band6q22.1Start116,877,212 bp[1]
End116,932,163 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_173560

NM_001159389
NM_177306

RefSeq (protein)

NP_775831

NP_001152861
NP_796280

Location (UCSC)Chr 6: 116.88 – 116.93 MbChr 10: 51.68 – 51.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.[5]

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185002 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019900 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.