RFX6 Chromosome 6
Regulatory factor X6
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What This Gene Does
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.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Regulatory factor X family
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000185002
Associated Conditions (5)
RFX6-related disorder
Monogenic diabetes
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Maturity-onset diabetes of the young
Diabetes mellitus
Key Variants
RS142162854
Conflicting classifications of pathogenicity
RFX6-related disorder, RFX6-related disorder
Health Risk
RS145117989
Conflicting classifications of pathogenicity
Health Risk
RS146081967
Conflicting classifications of pathogenicity
Monogenic diabetes, RFX6-related disorder, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Health Risk
RS146115506
Conflicting classifications of pathogenicity
Monogenic diabetes, RFX6-related disorder, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Health Risk
RS200522460
Conflicting classifications of pathogenicity
Monogenic diabetes, Monogenic diabetes
Health Risk
RS201522681
Conflicting classifications of pathogenicity
Monogenic diabetes, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, RFX6-related disorder
Health Risk
RS377721888
Conflicting classifications of pathogenicity
Monogenic diabetes, Monogenic diabetes
Health Risk
RS1445567359
Likely pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Health Risk
RS1774484879
Likely pathogenic
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS1775769921
Likely pathogenic
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Health Risk
RS2481937153
Likely pathogenic
RFX6-related disorder, RFX6-related disorder
Health Risk
RS2481946427
Likely pathogenic
RFX6-related disorder, RFX6-related disorder
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142162854 | Health Risk | Conflicting classifications of pathogenicity | RFX6-related disorder, RFX6-related disorder |
| RS145117989 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146081967 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, RFX6-related disorder, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS146115506 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, RFX6-related disorder, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS200522460 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Monogenic diabetes |
| RS201522681 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, RFX6-related disorder |
| RS377721888 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Monogenic diabetes |
| RS1445567359 | Health Risk | Likely pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS1774484879 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1775769921 | Health Risk | Likely pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS2481937153 | Health Risk | Likely pathogenic | RFX6-related disorder, RFX6-related disorder |
| RS2481946427 | Health Risk | Likely pathogenic | RFX6-related disorder, RFX6-related disorder |
| RS2482492907 | Health Risk | Likely pathogenic | RFX6-related disorder, RFX6-related disorder |
| RS267607012 | Health Risk | Likely pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS267607013 | Health Risk | Likely pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, RFX6-related disorder, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS781291978 | Health Risk | Likely pathogenic | — |
| RS1287138440 | Health Risk | Pathogenic | — |
| RS144648002 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS1562146029 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS183355578 | Health Risk | Pathogenic | — |
| RS2481934703 | Health Risk | Pathogenic | — |
| RS2481960127 | Health Risk | Pathogenic | — |
| RS587776514 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS587776515 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Diabetes mellitus, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS587776516 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS587776517 | Health Risk | Pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS587780440 | Health Risk | Pathogenic/Likely pathogenic | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |