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FLASH GENE
Symbol NDUFAF2 contributors: mct/npt/pgu - updated : 18-01-2010
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
HGNC id 28086
Corresponding disease
CMTND3 mitochondrial complex 1 deficiency 3
Location 5q12.1      Physical location : 60.240.955 - 60.448.863
Synonym name
  • Myc-induced mitochondrial protein
  • mimitin
  • NDUFA12-like
  • B17.2-like
  • Synonym symbol(s) MMTN, B17.2L, FLJ22398, NDUFA12L
    DNA
    TYPE functioning gene
    STRUCTURE 207.91 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 719 19 169 - 2005 15774466
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousnervecranial nerve  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Ndufa12l (84 pc)
    Homologene
    FAMILY
  • complex I NDUFA12 subunit family
  • CATEGORY chaperone/stress , enzyme , signaling cytokine
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • molecular chaperone that is essential for the assembly of complex I and for the normal function of the nervous system
  • may be involved in the control of apoptosis indirectly, through another protein, or proteins
  • involved in cell proliferation of esophageal squamous cell carcinoma
  • involved in Myc-dependent cell proliferation at least in esophageal squamous cell carcinoma cells
  • may be involved in the control of apoptosis indirectly, through another protein, or proteins
  • CELLULAR PROCESS cell cycle, progression
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct transcriptional target of c-Myc
  • interacts with a microtubular protein (MAP1S), and some changes of mimitin gene expression modulate activity of apoptotic caspases 3/7, suggesting that this protein may indirectly participate in apoptosis
  • MAP1S interacting with mimitin (NDUFAF2)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS