OnlineIMD

ABCB7 deficiency

  • Synonym(s)
    • Sideroblastic anemia and spinocerebellar ataxia
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • ABCB7 / ATP Binding Cassette Subfamily B Member 7
      • Xq13.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • ATP-binding cassette sub-family B member 7, mitochondrial
  • Disease group(s)
    • 8.2        Disorders of lipoic acid and iron-sulfur metabolism