RFX6

GENE INFORMATION

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Gene name

RFX6 (HGNC Symbol)

Synonyms

dJ955L16.1, MGC33442, RFXDC1

Description

Regulatory factor X, 6 (HGNC Symbol)

Entrez gene 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]

Chromosome

6

Cytoband

q22.1

Chromosome location (bp)

117198375 - 117253326

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185002 (version 75.37)

Entrez gene

222546

UniProt

Q8HWS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8HWS3

Antibodypedia

RFX6 antibodies
 

PROTEIN VIEW

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RFX6-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RFX6-001 ENSP00000332208
ENST00000332958
Q8HWS3
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