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    • INTERMEDIARY METABOLISM: ENERGY
      • 8         Disorders of mitochondrial cofactor biosynthesis
        • 8.2        Disorders of lipoic acid and iron-sulfur metabolism
          • Multiple mitochondrial dysfunctions syndrome
          • Lipoyltransferase 2 deficiency
          • Lipoic acid synthase deficiency
          • Lipoyltransferase 1 deficiency
          • NFU1 deficiency
          • BOLA3 deficiency
          • Glutaredoxin 5 deficiency
          • IBA57 deficiency
          • ISCA1 deficiency
          • ISCA2 deficiency
          • ISCU deficiency
          • ABCB7 deficiency
          • Ferredoxin reductase deficiency
          • Ferredoxin 2 deficiency
          • NFS1-ISD11 complex deficiency
          • Friedreich ataxia
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  • Multimers
  • More information
    • About Online IMD
OnlineIMD
  • Home
  • Diseases
    • INTERMEDIARY METABOLISM: ENERGY
      • 8         Disorders of mitochondrial cofactor biosynthesis
        • 8.2        Disorders of lipoic acid and iron-sulfur metabolism
          • Multiple mitochondrial dysfunctions syndrome
          • Lipoyltransferase 2 deficiency
          • Lipoic acid synthase deficiency
          • Lipoyltransferase 1 deficiency
          • NFU1 deficiency
          • BOLA3 deficiency
          • Glutaredoxin 5 deficiency
          • IBA57 deficiency
          • ISCA1 deficiency
          • ISCA2 deficiency
          • ISCU deficiency
          • ABCB7 deficiency
          • Ferredoxin reductase deficiency
          • Ferredoxin 2 deficiency
          • NFS1-ISD11 complex deficiency
          • Friedreich ataxia
  • Genes
  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD

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