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FLASH GENE
Symbol SLC25A12 contributors: mct - updated : 11-09-2019
HGNC name solute carrier family 25 (mitochondrial carrier, Aralar), member 12
HGNC id 10982
DNA
TYPE functioning gene
STRUCTURE 109.00 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D2S294 - D2S2284 - [D2S177 - D2S333 ]- D2S326 - qter
Authors Crackower (99)
Text [SLC25A12 ]
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain   lowly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal domain containing four calcium binding EF-hands
  • six putative transmembrane domains
  • a C terminal with three tandemly repeated the mitochondrial carrier protein domain superfamily
    • HOMOLOGY
    Homologene
    FAMILY solute carrier family 25,mitochondrial
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    text integral membrane protein,N terminal region in the interspace C terminus in the inner membrane
    basic FUNCTION
  • mitochondrial carrier aralar,isoform of the calcium-binding aspartate/glutamate exchanger
  • calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires SLC25A12-Malate Aspartate Shuttle in intact cortical neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text
  • calcium dependent mitochondrial soluble carrier
  • energy transfer
    • PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein substrate for the TIMM8A/TIMM13 complex
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS5 , EIEE39
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS