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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-03-2009
Symbol ASAT
Location Xq13.3
Name anemia, sideroblastic, and spinocerebellar ataxia
Corresponding gene ABCB7
Main clinical features
  • characterized by mild anemia with hypochromia and microcytosis
  • associated to an early onset non progressive cerebellar ataxia
  • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Gene product
    Name ATP binding cassette (ABCB7)
    Remark(s) loss of function mutations in ABCB7 directly or indirectly inhibit heme biosynthesis (PMID: 17192398))
  • mutation disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation (PMID: 16892088))
  • disease-causing mutations are in transmembrane segments, indicating the importance of transmembrane segments to ABCB7 function (PMID: 20481466))