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FLASH GENE
Symbol PMM2 contributors: mct - updated : 28-02-2009
HGNC name phosphomannomutase 2
HGNC id 9115
Corresponding disease
CDG1A congenital disorder of glycosylation, type 1A
Location 16p13.2      Physical location : 8.891.669 - 8.943.193
Synonym symbol(s) CDG1, CDGS
EC.number 5.4.2.8
DNA
TYPE functioning gene
STRUCTURE 51.49 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D16S502 - D16S495 - D16S513 - D16S768 - D16S406 - PMM2 /D16S3020 - D16S3087 - D16S404 - D16S407 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2340 27.95 246 - 1997 9140401
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Pmm2
Homologene
FAMILY
  • haloacid dehalogenase family of phosphatases/phosphomutases
  • eukaryotic PMM family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the second step in the conversion of fructose-6P to GDP-mannose
  • involved in the glycosylation of glycoconjugates
  • involved in the formation of mannose 1-phosphate needed for glycoprotein biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1A
    related resource Congenital Disorder of Glycosylation pagesase
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismglycosylation 
    therapy target for congenital disorder of glycosylation type Ia
    ANIMAL & CELL MODELS