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FLASH GENE
Symbol ABCB7 contributors: mct/npt - updated : 21-03-2019
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 7
HGNC id 48
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one ATP binding site
  • one transmembrane domains (6 segments) (half-type ATP binding cassette), constituent of mitochondria (the N terminus containing the information for targeting and import into the organelle)
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abc7
    homolog to yeast Atm1p
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • subfamily B (MDR/TAP)
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • half-ABC transporter, traffic ATPase, mitochondrial iron transport, involved in iron homeostasis
  • export a mitochondrially derived metabolite required for cytosolic Fe-S cluster assembly
  • involved in multidrug resistance as well as antigen presentation
  • essential for hematopoiesis
  • regulates not only the expression of extramitochondrial thioredoxin but also that of an intramitochondrial iron-sulfur-containing protein ferratase
  • may be required for mitochondrial iron homeostasis in neural cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text iron homeostasis
    PATHWAY
    metabolism
    signaling
    a component
  • a dimeric ferrochelatase physically bridged ABCB7 and ABCB10 homodimers by binding near the NBDs of each ABC transporter
    • INTERACTION
    DNA
    RNA
    small molecule
    protein putative interaction between ABCB7 and FECH
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASAT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in Refractory Anemia with Ring Sideroblasts (RARS)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS