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FLASH GENE
Symbol SLC25A13 contributors: mct - updated : 14-09-2013
HGNC name solute carrier family 25, member 13 (citrin)
HGNC id 10983
Corresponding disease
CTLN2 citrulinemia, type II
Location 7q21.3      Physical location : 95.749.532 - 95.951.459
Synonym name mitochondrial aspartate/glutamate carrier
Synonym symbol(s) ARALAR2, CITRIN, AGC2
DNA
TYPE functioning gene
STRUCTURE 201.93 kb     18 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
18 - 3204 74 675 - 2001 11566871
18 - 3207 - 676 - 2001 11566871
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative EF hand calcium binding domains in the cytosolic N terminal region
  • six transmembrane segments
  • three solcar repeats
  • a cytosolic C terminal tail with three tandemly repeated mitochondrial carrier protein domains
  • HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 25
  • mitochondrial carrier family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,membrane
    text integral membrane protein, N terminal region in the interspace C terminus in the inner membrane
    basic FUNCTION
  • calcium dependent mitochondrial carrier protein,isoform of the aspartate/glutamate exchanger, may be having a function in the urea cycle
  • plays a significant role in nitrogen metabolism by virtue of its shuttle activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text energy transfer
    PATHWAY
    metabolism energetic
    signaling
    a component
  • components of the malate aspartate shuttle (MAS), a major intracellular pathway to transfer reducing equivalents from NADH to the mitochondrial matrix
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • substrate for the TIMM8A/TIMM13 complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CTLN2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    induces apoptosis of hepatocytes through the mitochondrial death pathway, highlighting the importance of citrin in survival of hepatocytes and maintenance of liver function
    tumoral somatic mutation      
    in nonviral hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS