RFX6 regulatory factor X6
Gene ID: 222546, updated on 5-Mar-2024Gene type: protein coding
Also known as: MTFS; MTCHRS; RFXDC1; dJ955L16.1
- See all available tests in GTR for this gene
- Go to complete Gene record for RFX6
- Go to Variation Viewer for RFX6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. GeneReviews: Not available | |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | See labs |
Genomic context
- Location:
- 6q22.1
- Sequence:
- Chromosome: 6; NC_000006.12 (116877242..116932161)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RFX6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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