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FLASH GENE
Symbol ISPD contributors: mct - updated : 16-01-2013
HGNC name isoprenoid synthase domain containing
HGNC id 37276
Corresponding disease
WLKWS7 Walker-Warburg syndrome 7
Location 7p21.2      Physical location : 16.127.151 - 16.460.947
Synonym name
  • 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
  • 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
  • notch1-induced protein
    • Synonym symbol(s) MDDGA7, Nip, CDP-ME
    EC.number 2.7.7.-
    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