ABCB6 explained

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

• ATP-binding cassette transporter

Further reading

• Paterson JK, Shukla S, Black CM . Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane . Biochemistry . 46 . 33 . 9443–52 . 2007 . 17661442 . 10.1021/bi700015m . etal.
• Krishnamurthy PC, Du G, Fukuda Y . Identification of a mammalian mitochondrial porphyrin transporter . Nature . 443 . 7111 . 586–9 . 2006 . 17006453 . 10.1038/nature05125 . 2006Natur.443..586K . 4300410 . etal.
• Kurashima-Ito K, Ikeya T, Senbongi H . 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 . 16791740 . 10.1007/s10858-006-9000-6 . 42668666 . etal.
• Gerhard DS, Wagner L, Feingold EA . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Visapää I, Fellman V, Lanyi L, Peltonen L . 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 . 11977179 . 10.1002/ajmg.10331 .
• Emadi-Konjin HP, Zhang H, Anandan V . 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 . 11955620 . 10.1016/s0167-4781(01)00340-2. etal.
• Mitsuhashi N, Miki T, Senbongi H . MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis . J. Biol. Chem. . 275 . 23 . 17536–40 . 2000 . 10837493 . 10.1074/jbc.275.23.17536 . etal. free .
• Furuya KN, Bradley G, Sun D . Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis . Cancer Res. . 57 . 17 . 3708–16 . 1997 . 9288777 . etal.
• Andersson B, Wentland MA, Ricafrente JY . A "double adaptor" method for improved shotgun library construction . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 . etal.

Notes and References

1. Allikmets R, Gerrard B, Hutchinson A, Dean M . 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 . 8894702 . 10.1093/hmg/5.10.1649 . free .
2. Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA . Large-Scale Concatenation cDNA Sequencing . Genome Res . 7 . 4 . 353–8 . Jun 1997 . 9110174 . 139146 . 10.1101/gr.7.4.353.
3. Zhang C, Li D, Zhang J, Chen X . Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria . J Invest Dermatol . Mar 2013 . 23519333 . 10.1038/jid.2013.145 . 133 . 9 . 2221–8. free .
4. Web site:
   1. 111600 - BLOOD GROUP, LANGEREIS SYSTEM; LAN
   . Bocchini CA . . 2015 . 16 May 2020 .