RFX6 Antibody

1. RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY). PMID: 29026101
2. 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 PMID: 26264437
3. association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations. PMID: 26537068
4. RFX6 controls insulin gene transcription, insulin content, and secretion by regulation of Ca(2+)-channel genes. PMID: 25497100
5. rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus. PMID: 23803082
6. A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding. PMID: 24390282
7. Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations PMID: 22662242
8. RFX6 mutation is responsible for neonatal diabetes syndrome. PMID: 21965172
9. Therefore, RFX6 appears to have a pivotal role in the maintenance of the phenotype of the beta-cells in addition to their development. PMID: 21750414
10. 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. PMID: 21215266
11. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20676098
12. studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans PMID: 20148032
13. RFX6 is a winged helix transcription factor expressed almost exclusively in the pancreatic islets. PMID: 18673564

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HGNC: 21478

OMIM: 612659

KEGG: hsa:222546

STRING: 9606.ENSP00000332208

UniGene: Hs.352276