Gene Symbol: Abcb7
Description: ATP binding cassette subfamily B member 7
Alias: ATP-binding cassette sub-family B member 7, mitochondrial, ABC transporter 7 protein, ATP-binding cassette transporter 7, ATP-binding cassette, sub-family B (MDR/TAP), member 7, ATP-binding cassette, sub-family B, member 7, mitochondrial, ATP-binding cassette, subfamily B (MDR/TAP), member 7
- Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)R Allikmets
Intramural Research Support Program, SAIC Frederick and Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21 18, Frederick Cancer Research and Development Center, Frederick, MD 21702 1201, USA
Hum Mol Genet 8:743-9. 1999..These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome...
- Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturationS Bekri
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Blood 96:3256-64. 2000..These data demonstrate that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family...
- X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411LA Maguire
Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
Br J Haematol 115:910-7. 2001..An uncle affected by ataxia also carried this mutation. This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome...
- The role of the iron transporter ABCB7 in refractory anemia with ring sideroblastsJacqueline Boultwood
LRF Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Oxford, United Kingdom
PLoS ONE 3:e1970. 2008..XLSA/A is caused by partial inactivating mutations of the ABCB7 ATP-binding cassette transporter gene, which functions to enable transport of iron from the mitochondria to the ..
- Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelataseShigeru Taketani
Department of Biotechnology, Kyoto Institute of Technology, Japan
Blood 101:3274-80. 2003..Then, the expression of ABC7 contributes to the production of heme during the differentiation of erythroid cells...