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FLASH GENE
Symbol SLC25A44 contributors: mct - updated : 10-05-2014
HGNC name solute carrier family 25, member 44
HGNC id 29036
Location 1q22      Physical location : 156.163.729 - 156.182.586
Synonym symbol(s) FLJ90431, KIAA0446, RP11-54H19.3
DNA
TYPE functioning gene
STRUCTURE 18.86 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 3684 - 322 - 2006 16949250
4 - 3660 - 314 - 2006 16949250
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Endocrineparathyroid   highly
Nervousbrainbasal nucleicorpus callosum highly Homo sapiens
 brainhindbraincerebellum highly Homo sapiens
 braindiencephalonepithalamus highly Homo sapiens
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four EF-hand domains
  • three solcar repeats
  • HOMOLOGY
    Homologene
    FAMILY mitochondrial carrier family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • calcium-dependent mitochondrial aspartate and glutamate carrier
  • may have a function in the urea cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Intracerebral Hemorrhage, non lobar
    Variant & Polymorphism SNP
  • variants within 1q22 are located in an LD block of 48 kb that contains PMF1 and SLC25A44 associated with the risk of Intracerebral Hemorrhage, non lobar
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS