ABCB7

ABCB7

A gene on chromosome Xq13.3 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance as well as antigen presentation, and thought to play a role in metal homeostasis.
 
Molecular pathology
ABCB7 mutations have been linked to X-linked sideroblastic anaemia with ataxia.
References in periodicals archive ?
Role of transferrin receptor and the ABC transporters ABCB6 and ABCB7 for resistance and differentiation of tumor cells towards artesunate.
3 Stores iron in ferritin mitochondrial matrix ATP-Binding 300135 ABCB7 Xql3.
inner membrane channels by a specific carrier, ABCB7 (ATP-Binding Cassette, Subfamily B, Member 7) (43).
3 Mutation in Hypochromic mitochondria] microcytic ABCB7 gene anemia, early onset nonprogressive ataxia Myopathy associated with 255125 Autosomal 12q24.