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ATP-binding cassette, sub-family B (MDR/TAP), member 6
Symbols ABCB6; PRP; ABC; ABC14; EST45597; FLJ22414; MTABC3; umat
External IDs OMIM605452 MGI1921354 HomoloGene11375 GeneCards: ABCB6 Gene
RNA expression pattern
PBB GE ABCB6 203192 at tn.png
More reference expression data
Species Human Mouse
Entrez 10058 74104
Ensembl ENSG00000115657 ENSMUSG00000026198
UniProt Q9NP58 O70322
RefSeq (mRNA) NM_005689 NM_023732
RefSeq (protein) NP_005680 NP_076221
Location (UCSC) Chr 2:
219.78 - 219.79 Mb
Chr 1:
75.05 - 75.06 Mb
PubMed search [1] [2]

ATP-binding cassette sub-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 lethal neonatal metabolic syndrome, a disorder of mitochondrial function.[3]


See also


  1. ^ Allikmets R, Gerrard B, Hutchinson A, Dean M (Feb 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. PMID 8894702.  
  2. ^ Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Jun 1997). "Large-scale concatenation cDNA sequencing". Genome Res 7 (4): 353-8. PMID 9110174.  
  3. ^ a b "Entrez Gene: ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6".  

Further reading

  • Paterson JK, Shukla S, Black CM, et al. (2007). "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane.". Biochemistry 46 (33): 9443–52. doi:10.1021/bi700015m. PMID 17661442.  
  • Krishnamurthy PC, Du G, Fukuda Y, et al. (2006). "Identification of a mammalian mitochondrial porphyrin transporter.". Nature 443 (7111): 586–9. doi:10.1038/nature05125. PMID 17006453.  
  • Kurashima-Ito K, Ikeya T, Senbongi H, et al. (2006). "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. doi:10.1007/s10858-006-9000-6. PMID 16791740.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Visapää I, Fellman V, Lanyi L, Peltonen L (2002). "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. doi:10.1002/ajmg.10331. PMID 11977179.  
  • Emadi-Konjin HP, Zhang H, Anandan V, et al. (2002). "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. PMID 11955620.  
  • Mitsuhashi N, Miki T, Senbongi H, et al. (2000). "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis.". J. Biol. Chem. 275 (23): 17536–40. doi:10.1074/jbc.275.23.17536. PMID 10837493.  
  • Furuya KN, Bradley G, Sun D, et al. (1997). "Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis.". Cancer Res. 57 (17): 3708–16. PMID 9288777.  
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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