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FLASH GENE
Symbol GMDS contributors: mct - updated : 02-06-2020
HGNC name GDP-mannose 4,6-dehydratase
HGNC id 4369
DNA
TYPE functioning gene
STRUCTURE 621.81 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1665 - 372 - 2016 26382291
11 - 1446 - 342 - 2016 26382291
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 salivary gland   highly
Nervousnervecranial nerve  highly Homo sapiens
Visualeyeretina    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to GDP-mannose 4,6-dehydratase
Homologene
FAMILY GDP-mannose 4,6-dehydratase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION extracellular
    intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • converting GDP-mannose to GDP-fructose
  • GMDS controls the production of fucosylated glycans, which in turn regulates cell migration and adhesion, as well as the formation of axonal projections and synapses
  • involvement of GMDS mutation in the progression of colorectal cancer
  • is a key enzyme involved in the synthesis of GDP-fucose
  • encodes a short-chain mannose dehydrogenase enzyme involved in the regulation of hindbrain neural migration
  • short-chain mannose dehydrogenase enzyme that catalyzes the production of GDP-fucose from GDP-mannose
  • may play a role in the regulation of cell migration and axonal pathfinding
  • FOXC1, GMDS, FOXF2, and FOXQ1 may represent loci for enhancer-driven changes in gene expression that could affect the developing embryo
  • is involved in cellular fucosylation
  • amplification of GMDS and TSTA3, likely contributes to the elevated core fucose observed in hepatocellular carcinoma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    carbohydrate biosynthesis
    a component
  • GMDS forms stable 1:1 complexes with the TNKS ankyrin repeat domain
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    NADP
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung adenocarcinoma at both mRNA and protein levels
    tumoral somatic mutation      
    frequency of GMDS mutation was slightly higher in metastatic colon cancer
    tumoral   amplification    
    likely contributes to the elevated core fucose observed in hepatocellular carcinoma
    Susceptibility to Primary open-angle glaucoma (POAG)
    Variant & Polymorphism SNP
  • rs11969985 is associated with development of POAG
  • Candidate gene
    Marker a potential biomarker for lung adenocarcinoma diagnosis
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    potential target for lung adenocarcinoma treatment
    ANIMAL & CELL MODELS