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FLASH GENE
Symbol ISPD contributors: mct - updated : 16-01-2013
HGNC name isoprenoid synthase domain containing
HGNC id 37276
DNA
TYPE functioning gene
STRUCTURE      10 Exon(s)
MAPPING cloned   linked   status
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 5374 - 401 - 2012 23217742
10 - 5524 - 451 - 2012 23217742
EXPRESSION
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases
    • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • glycosyltransferase family
  • cytidyltransferase family of enzymes
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • homodimeric 2C-methyl-D-erythritol 4-phosphate cytidylyltransferase contributing to the nonmevalonate pathway of isoprenoid biosynthesis
  • required for the glycosylation of dystroglycan
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperative interaction between ISPD and both FKTN and FKRP in alpha-dystroglycan glycosylation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS