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FLASH GENE
Symbol ZBTB42 contributors: mct - updated : 29-11-2016
HGNC name zinc finger and BTB domain containing 42
HGNC id 32550
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • conserved N-terminal BTB domain, usually present as a single copy and implicated in protein–protein interactions
  • C-terminal four zinc finger domains
    • HOMOLOGY
    interspecies homolog to zebrafish zbtb42
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text
  • distributed in the nucleoplasm, with particular enrichment in nuclei underlying the neuromuscular junctions
  • highly specific localization of ZBTB42 to the nucleoplasm of myofibrils, especially in nuclei at the NMJ
    • basic FUNCTION
  • may be involved in metabolic syndrome phenotypes
  • likely essential for normal muscle development
  • may play a role as a transcription factor that regulates the expression of important muscle developmental genes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS6
    Susceptibility to insulin resistance and development of the metabolic syndrome
    Variant & Polymorphism SNP
  • SNP that forms part of a small haplotype associated with increased risk of insulin resistance and the development of the metabolic syndrome
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • skeletal muscle of Zbtb42-deficient zebrafish lacked the clearly defined H-zone that is present in wild-type muscles