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FLASH GENE
Symbol TIMM8A contributors: mct - updated : 24-12-2013
HGNC name translocase of inner mitochondrial membrane 8 homolog A (yeast)
HGNC id 11817
Corresponding disease
ADS ataxia-dementia syndrome
DDOA deafness-dystonia-optic atrophy syndrome
JS opticoacoustic nerve atrophy with dementia
Location Xq22.1      Physical location : 100.600.643 - 100.603.957
Synonym name
  • deafness and dystonia peptide
  • X-linked deafness dystonia protein
  • mitochondrial import inner membrane translocase subunit Tim8 A
  • Synonym symbol(s) DDP, MT1, TIM8A, DXS1274E, MTS, DDP1, DFN1, DDTS, TIM8
    DNA
    TYPE functioning gene
    STRUCTURE 28.41 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 569 5.18 48 - -
    2 - 1459 10.9 97 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly, in brain and lowly in liver and kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a largely alpha-helical structure, one on the N terminal region terminated by two cysteine residues, one central comprising two cysteine residues
  • a third one and separated from each other by random coil and suggesting a hairpin of helices held together by the cysteine coodination of the Zn2+ ion
  • conjugated
    HOMOLOGY
    interspecies ortholog to murine Timm8a
    homolog to yeast,translocase of inner mitochondrial protein 8,A
    ortholog to yeast S.cerevisiae Tim8p
    intraspecies paralog to TIM8B
    Homologene
    FAMILY
  • mitochondrial intermembrane proteins family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    text intermembrane transport in mitochondria
    basic FUNCTION
  • involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system , mitochondrial transport , neurogenesis
    text putatively involved in neurologic development
    PATHWAY
    metabolism
    signaling
    a component
  • component of the TIM complex
  • TIM22 protein import pathway consists of two intermembrane space chaperone complexes, the TIMM9-TIMM10 and TIMM8A-TIMM13 complexes (Hasson 2010)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactig with SLC25A12 and SLC25A13 (substrates for the TIMM8A/TIMM13 complex)
  • interacting with STAM in the cytoplasm or at the mitochondrial outer membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADS , JS , DDOA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS