RFX6
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| Location (UCSC) | Chr 6: 116.88 – 116.93 Mb | Chr 10: 51.55 – 51.61 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/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
The nuclear protein encoded by this gene is a member of the
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.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000185002 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019900 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Regulatory factor X, 6". Retrieved 2012-02-10.
Further reading
- Aftab S, Semenec L, Chu JS, Chen N (2008). "Identification and characterization of novel human tissue-specific RFX transcription factors". BMC Evolutionary Biology. 8 (1): 226. PMID 18673564.
- Soyer J, Flasse L, Raffelsberger W, Beucher A, Orvain C, Peers B, Ravassard P, Vermot J, Voz ML, Mellitzer G, Gradwohl G (January 2010). "Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development". Development. 137 (2): 203–12. PMID 20040487.
- Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Désir J, Vanden Eijnden S, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS (February 2010). "Rfx6 directs islet formation and insulin production in mice and humans". Nature. 463 (7282): 775–80. PMID 20148032.
- Takata R, Akamatsu S, Kubo M, Takahashi A, Hosono N, Kawaguchi T, Tsunoda T, Inazawa J, Kamatani N, Ogawa O, Fujioka T, Nakamura Y, Nakagawa H (September 2010). "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population". Nature Genetics. 42 (9): 751–4. S2CID 24824386.
- Pearl EJ, Jarikji Z, Horb ME (March 2011). "Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes". Developmental Biology. 351 (1): 135–45. PMID 21215266.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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