Biology:ABCB6
 Generic protein structure example |
ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[1][2][3]
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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism.[3] The protein also carries the Lan antigen, which defines the Lan blood group system.[4]
See also
References
- ↑ "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. Feb 1997. doi:10.1093/hmg/5.10.1649. PMID 8894702.
- ↑ "Large-Scale Concatenation cDNA Sequencing". Genome Res 7 (4): 353–8. Jun 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- ↑ 3.0 3.1 "Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria". J Invest Dermatol 133 (9): 2221–8. Mar 2013. doi:10.1038/jid.2013.145. PMID 23519333.
- ↑ Bocchini CA (2015). "#111600 - BLOOD GROUP, LANGEREIS SYSTEM; LAN". Online Mendelian Inheritance in Man. https://www.omim.org/entry/111600.
Further reading
- "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane". Biochemistry 46 (33): 9443–52. 2007. doi:10.1021/bi700015m. PMID 17661442.
- "Identification of a mammalian mitochondrial porphyrin transporter". Nature 443 (7111): 586–9. 2006. doi:10.1038/nature05125. PMID 17006453. Bibcode: 2006Natur.443..586K.
- "Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6". J. Biomol. NMR 35 (1): 53–71. 2006. doi:10.1007/s10858-006-9000-6. PMID 16791740.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis". Am. J. Med. Genet. 109 (3): 202–5. 2002. doi:10.1002/ajmg.10331. PMID 11977179.
- "Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6". Biochim. Biophys. Acta 1574 (2): 117–30. 2002. doi:10.1016/s0167-4781(01)00340-2. PMID 11955620.
- "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis". J. Biol. Chem. 275 (23): 17536–40. 2000. doi:10.1074/jbc.275.23.17536. PMID 10837493.
- "Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis". Cancer Res. 57 (17): 3708–16. 1997. PMID 9288777.
- "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
External links
- ABCB6+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- ABCB6 human gene location in the UCSC Genome Browser.
- ABCB6 human gene details in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9NP58 (ATP-binding cassette sub-family B member 6, mitochondrial) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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