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FLASH GENE
Symbol FKRP contributors: mct - updated : 26-02-2011
HGNC name fukutin related protein
HGNC id 17997
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal arginine residue
  • a transmembrane domain
    • HOMOLOGY
    Homologene
    FAMILY
  • WD-repeat striatin family
  • licD transferase family
    • CATEGORY motor/contractile , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • in rough endoplasmic reticulum
  • type 2 transmembrane protein
  • targeted to the medial-Golgi apparatus through its N-terminus and transmembrane domains
    • basic FUNCTION
  • glycosyltransferase involved in alpha-dystroglycan glycosylation
  • may be functioning as scaffolding or signaling protein
  • may be having a glycosyltransferase or phosphoryl-ligand transferase activity
  • may be involved in O-mannosylglycan synthesis of alpha-dystroglycan, likely in the initial step in this synthesis
  • Golgi-resident protein required for the post-translational modification of dystroglycan
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding calmodulin in a calcium dependent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2I , MDC1C , WLKWS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    present at the sarcolemma in mouse