| ABCC12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ABCC12, MRP9, ATP binding cassette subfamily C member 12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607041 MGI: 2441679 HomoloGene: 57211 GeneCards: ABCC12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Multidrug resistance-associated protein 9 is a protein that in humans is encoded by the ABCC12 gene.[5][6][7]
Function
This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer.[7] Loss of function is implicated in hereditary cholestasis.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000140798 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036872 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Dean M, Rzhetsky A, Allikmets R (Jul 2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Res. 11 (7): 1156–66. doi:10.1101/gr.184901. PMID 11435397. S2CID 9528197.
- ↑ Tammur J, Prades C, Arnould I, Rzhetsky A, Hutchinson A, Adachi M, Schuetz JD, Swoboda KJ, Ptacek LJ, Rosier M, Dean M, Allikmets R (Aug 2001). "Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12". Gene. 273 (1): 89–96. doi:10.1016/S0378-1119(01)00572-8. PMID 11483364.
- 1 2 "Entrez Gene: ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12".
External links
- Human ABCC12 genome location and ABCC12 gene details page in the UCSC Genome Browser.
Adding link to ABCC12 gene details page and display in UCSC genome browser.
Further reading
- Haimeur A, Conseil G, Deeley RG, Cole SP (2004). "The MRP-related and BCRP/ABCG2 multidrug resistance proteins: biology, substrate specificity and regulation". Curr. Drug Metab. 5 (1): 21–53. doi:10.2174/1389200043489199. PMID 14965249.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- 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. PMC 528928. PMID 15489334.
- Mammalian Gene Collection Program Team; Strausberg, R. L.; Feingold, E. A.; Grouse, L. H.; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Bera TK, Iavarone C, Kumar V, et al. (2002). "MRP9, an unusual truncated member of the ABC transporter superfamily, is highly expressed in breast cancer". Proc. Natl. Acad. Sci. U.S.A. 99 (10): 6997–7002. Bibcode:2002PNAS...99.6997B. doi:10.1073/pnas.102187299. PMC 124517. PMID 12011458.
- Yabuuchi H, Shimizu H, Takayanagi S, Ishikawa T (2001). "Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12". Biochem. Biophys. Res. Commun. 288 (4): 933–9. doi:10.1006/bbrc.2001.5865. PMID 11688999.
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