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抗Human RFX6 抗体:
抗Mouse (Murine) RFX6 抗体:
抗Rat (Rattus) RFX6 抗体:
RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY (显示 HNF4A 抗体)).
study reports two individuals each with compound heterozygous RFX6 nonsense mutations and an intestinal phenotype consistent with Mitchell-Riley syndrome, but with onset of diabetes in childhood rather than in the first 2 weeks of life
association of the THADA, FOXP4 (显示 FOXP4 抗体), GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations.
RFX6 controls insulin (显示 INS 抗体) gene transcription, insulin (显示 INS 抗体) content, and secretion by regulation of Ca(2 (显示 CA2 抗体)+)-channel genes.
rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus.
A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 (显示 HOXB13 抗体) chromatin binding.
Our results provide further support for association of the C2orf43, FOXP4 (显示 FOXP4 抗体), GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations
RFX6 mutation is responsible for neonatal diabetes syndrome.
Therefore, RFX6 appears to have a pivotal role in the maintenance of the phenotype of the beta-cells in addition to their development.
In early development Rfx6 plays a broad role, being essential for development of most anterior endodermal organs. At later stages however, Rfx6 function is restricted to endocrine cells.
Rfx6 loss in adult beta cells leads to glucose intolerance, impaired beta cell glucose sensing, and defective insulin (显示 INS 抗体) secretion.
Rfx6 increases GIP (显示 GIP 抗体) expression and content in enteroendocrine K-cells and is involved in GIP (显示 GIP 抗体) hypersecretion in high fat diet-induced obesity.
studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans
Rfx6 is found in postmitotic islet progenitor cells in the embryo and is maintained in all developing and adult islet cell types. It is dependent on Ngn3 (显示 NEUROG3 抗体) and during islet cell differentiation.
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. 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.
DNA-binding protein RFX6
, regulatory factor X domain-containing protein 1
, regulatory factor X domain containing 1
, Regulatory factor X 6