Human regulatory factor X, 6 ELISA Kit | RFX6 elisa kit

Human DNA-binding protein RFX6, RFX6 ELISA Kit

Cat. Num. AAA9319736

• Gene Names: RFX6; MTFS; MTCHRS; RFXDC1; dJ955L16.1
• Reactivity: Human
• Synonyms: regulatory factor X; 6; Human DNA-binding protein RFX6; RFX6 ELISA Kit; Human DNA-binding protein RFX6 (RFX6) ELISA kit; MGC33442; RFXDC1; dJ955L16.1; regulatory factor X domain containing 1; RFX6 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 258547126
• NCBI GeneID: 222546
• NCBI Accession #: NP_775831.2
• NCBI GenBank Nucleotide #: NM_173560.3
• UniProt Accession #: Q8HWS3; Q5T6B3
• Molecular Weight: 102,461 Da
• NCBI Official Full Name: DNA-binding protein RFX6
• NCBI Official Synonym Full Names: regulatory factor X, 6
• NCBI Official Symbol: RFX6
• NCBI Official Synonym Symbols: MTFS; MTCHRS; RFXDC1; dJ955L16.1
• NCBI Protein Information: DNA-binding protein RFX6; regulatory factor X domain-containing protein 1
• UniProt Protein Name: DNA-binding protein RFX6
• Protein Family: DNA-binding protein
• UniProt Gene Name: RFX6
• UniProt Synonym Gene Names: RFXDC1
• UniProt Entry Name: RFX6_HUMAN

NCBI Description

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]

Uniprot Description

RFX6: Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes. Defects in RFX6 are the cause of the Mitchell-Riley syndrome (MIRIS). The Mitchell-Riley syndrome is characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There are no dysmorphic features. Patients usually die in the first year of life despite aggressive medical management. Belongs to the RFX family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 6q22.1

Cellular Component: nucleus

Molecular Function: protein binding; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis; regulation of insulin secretion; endocrine pancreas development

Disease: Mitchell-riley Syndrome