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Symbol AMT contributors: mct - updated : 06-12-2016
HGNC name aminomethyltransferase (glycine cleavage system protein T)
HGNC id 473
Corresponding disease
GCE3 glycine encephalopathy 3
NKH2 hyperglycinemia 2, non ketotic
Location 3p21.31      Physical location : 49.454.211 - 49.460.111
Synonym name
  • tetrahydrofolate-requiring enzyme
  • glycine cleavage system T protein
    • Synonym symbol(s) GCE, NKH, GCST, NICN1, GCVT
    EC.number 2.1.2.10
    DNA
    TYPE functioning gene
    STRUCTURE 5.90 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1955 - 385 - 1994 8188235
    8 - 2083 - 359 - 1994 8188235
    8 - 2047 - 347 - 1994 8188235
    9 - 2215 - 403 - 1994 8188235
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue   
    Lymphoid/Immunespleen    
     thymus    
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		glycine cleavage T protein domain
    HOMOLOGY
    Homologene
    FAMILY the GCVT family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • amino-methyltransferase, tetrahydrofolate (THF) dependent, catalyzing the third step of the glycine cleavage system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NKH2 , GCE3
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Amt(-/-) mice developed neural tube defects at high frequency