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