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FLASH GENE
Symbol PIGL contributors: mct - updated : 11-04-2012
HGNC name phosphatidylinositol glycan, class L
HGNC id 8966
Corresponding disease
CHIME colobomas, heart defects, ichthyosiform dermatosis, mental retardation and ear anomalies
Location 17p11.2      Physical location : 16.120.508 - 16.229.572
Synonym name
  • N-acetylglucosaminylphosphatidylinositol deacetylase
    • EC.number 3.5.1.89
    DNA
    TYPE functioning gene
    STRUCTURE 109.06 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1163 - 252 - 1999 10085243
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae ymb281w
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • phosphatidylinositol glycan, class L, N-acetylglucosaminylphosphatidylinositol-N-acetylase
  • second step in glycosylphosphatidylinositol biosynthesis
  • is a zinc metalloenzyme
  • de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component not assiciated with the GPI-GnT complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHIME
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS