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FLASH GENE
Symbol SLC25A38 contributors: mct/npt - updated : 02-11-2020
HGNC name solute carrier family 25, member 38
HGNC id 26054
Corresponding disease
ASPR sideroblastic anemia, pyridoxine-refractory
Location 3p22.1      Physical location : 39.424.814 - 39.438.819
Synonym name
  • appoptosin
  • mitochondrial glycine transporter GlyC
  • Synonym symbol(s) FLJ20551, FLJ22703, SIDBA2
    DNA
    TYPE functioning gene
    STRUCTURE 14.01 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2124 - 304 - 2016 27476175
    6 - 1934 - 237 - 2016 27476175
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal mitochondrial targeting signal
  • six transmembrane helices
  • four EF-hand domains
  • three solcar repeats
  • HOMOLOGY
    interspecies homolog to yeast Hem25
    Homologene
    FAMILY
  • mitochondrial carrier family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • calcium-dependent mitochondrial solute carrier
  • erythroid specific mitochondrial carrier, important for the biosynthesis of heme in eukaryotes (Guernsey 2009)
  • may be facilitates ALA production by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane (Guernsey 2009)
  • is a pro-apoptotic protein, which regulates intrinsic caspase-dependent apoptosis
  • main mitochondrial glycine transporters required for heme synthesis
  • mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can interact with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASPR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    potential therapeutic target for ALL
    ANIMAL & CELL MODELS