ABCB7
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]
Function
Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.
Clinical significance
Clinical significance
Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]
References
References
- ↑ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 1997). “Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human”. Genomics. 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.
- ↑ 2.0 2.1 “Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7”.
- ↑ Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 2003). “Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase”. Blood. 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705.
Further reading
Further reading
- Allikmets R, Gerrard B, Hutchinson A, Dean M (1997). “Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database”. Hum. Mol. Genet. 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702.
- Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E (1998). “Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia”. J. Hum. Genet. 43 (2): 115–22. doi:10.1007/s100380050051. PMID 9621516.
- Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (1998). “Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning”. Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
- Csere P, Lill R, Kispal G (1999). “Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p”. FEBS Lett. 441 (2): 266–70. doi:10.1016/S0014-5793(98)01560-9. PMID 9883897.
- Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM (1999). “Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)”. Hum. Mol. Genet. 8 (5): 743–9. doi:10.1093/hmg/8.5.743. PMID 10196363.
- Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (2001). “Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells”. Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
- Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF (2000). “Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation”. Blood. 96 (9): 3256–64. PMID 11050011.
- Maguire A, Hellier K, Hammans S, May A (2002). “X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L”. Br. J. Haematol. 115 (4): 910–7. doi:10.1046/j.1365-2141.2001.03015.x. PMID 11843825.
- Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (2003). “Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase”. Blood. 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705.
External links
External links
- GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
- ABCB7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- ABCB7 human gene location in the UCSC Genome Browser.
- ABCB7 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH