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ATP-binding cassette, sub-family B (MDR/TAP), member 6
Identifiers
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
Orthologs
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]

Contents

See also

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10058.  

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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