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FLASH GENE
Symbol ALG12 contributors: mct/npt - updated : 18-09-2009
HGNC name asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
HGNC id 19358
Corresponding disease
CDG1G congenital disorder of glycosylation, type 1G
Location 22q13.33      Physical location : 50.296.855 - 50.312.106
Synonym name
  • asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
  • dolichyl-P-mannose, Man7 Glc Nac2-PP-dolichyl mannosyltransferase
  • mannosyltransferase ALG12 homologł
  • membrane protein SB87
    • Synonym symbol(s) MGC3136, ECM39, PP14673, MGC111358
    EC.number 2.4.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 15.25 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2387 - 488 - Dunham (1999)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eleven potential transmembrane spans
  • one consensus sequence for N-glycosylation
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae alg12
    Homologene
    FAMILY
  • glycosyltransferase 22 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • catalyzing the addition of the eighth mannose residue into the lipid-linked oligosaccharide precusor (LLO) during the synthesis of complex oligosaccharide-linked glycoprotein
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1G
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS