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FLASH GENE
Symbol RFX6 contributors: mct - updated : 29-11-2016
HGNC name regulatory factor X, 6
HGNC id 21478
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • conserved RFX DNA binding domains (DBDs)
  • HOMOLOGY
    interspecies homolog to murine Rfxdc1
    Homologene
    FAMILY
  • RFX (regulatory factor X) family
  • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • t-RNA intron endonuclease activity
  • regulation of transcription
  • novel regulator of islet cell development (Soyer 2010)
  • critical for development and associated with an expanding list of serious disease conditions including major histocompatibility (MHC) class II deficiency and ciliaophathies (Aftab 2008)
  • directs islet cell differentiation downstream of NEUROG3 (Smith 2010)
  • acts downstream of the pro-endocrine factor NEUROG3 (Smith 2010)
  • new factor in endoderm and islet development, that is required for the differentiation of four of the five islet cell types and for the production of insulin (Smith 2010)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • beta-cell enriched transcription factor RFX6 is a major regulator of GPR68
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHIG
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Mice lacking Rfx6 failed to generate any of the normal islet cell types except for pancreatic-polypeptide-producing cells (Smith 2010)