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FLASH GENE
Symbol MMADHC contributors: mct - updated : 16-10-2013
HGNC name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
HGNC id 25221
Corresponding disease
MMAD methylmalonic aciduria Cbld type
Location 2q23.2      Physical location : 150.426.149 - 150.444.330
Synonym name
  • methylmalonic aciduria, cblD type, and homocystinuria gene
  • chromosome 2 open reading frame 25
  • hypothetical protein LOC27249
  • protein C2orf25, mitochondrial
  • Synonym symbol(s) CL25022, HSPC161, My011, C2orf25, cblD
    DNA
    TYPE functioning gene
    STRUCTURE 18.18 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1466 32.8 296 - Hillier (2005)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     salivary gland   highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative cobalamin binding motif
  • a putative mitochondrial targeting sequence
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • 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
  • cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative cobalamin binding motif
  • a putative mitochondrial targeting sequence
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMAD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS