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FLASH GENE
Symbol MMACHC contributors: mct/npt/pgu - updated : 16-10-2013
HGNC name methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
HGNC id 24525
Corresponding disease
MMACHC methylmalonic aciduria and homocystinuria, cbIC type
Location 1p34.1      Physical location : 45.965.855 - 45.976.737
Synonym symbol(s) RP11-291L19.3, DKFZP564I122, cblC, FLJ25671
DNA
TYPE functioning gene
SPECIAL FEATURE opposite orientation
STRUCTURE 10.88 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2866 - 282 - 2009 19447654
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal region folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake
  • HOMOLOGY
    Homologene
    FAMILY
  • MMACHC family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may play a direct or indirect role in removal of the upper axial ligand, reduction of cobalamin or both
  • may be involved in in the binding and intracellular trafficking of cobalamin
  • catalyzes the decyanation of cyanocobalamin (vitamin B12)
  • responsible for early processing of both CNCbl (decyanation) and alkylcobalamins (dealkylation) in mammalian cells
  • MMACHC functions in the cytoplasm while MMADHC functions downstream of MMACHC in both the cytoplasm and the mitochondrion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MMADHC was confirmed as a binding partner for MMACHC
  • binds intracellular Cbl and exhibits flavin mononucleotide (FMN)-dependent decyanase activity toward cyano-Cbl as well as glutathione (GSH)-dependent dealkylase activity toward alkyl-Cbls
  • interaction of MTR with MMACHC that may play a role in the regulation of the cellular processing of Cbls that is required for Cbl cofactor synthesis
  • role for HCFC1 in transcriptional regulation of MMACHC
  • interaction between ZNF143 and HCFC1, a protein that regulates expression of the Cbl trafficking enzyme MMACHC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMACHC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS