ABCC6

ATP-binding cassette, sub-family C (CFTR/MRP), member 6, also known as ABCC6, is a human gene.cite web | title = Entrez Gene: ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=368| accessdate = ] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.cite journal | author = Kuss BJ, O'Neill GM, Eyre H, Doggett NA, Callen DF, Davey RA | title = ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors | journal = Genomics | volume = 51 | issue = 3 | pages = 455–8 | year = 1998 | pmid = 9721217 | doi = 10.1006/geno.1998.5349 | issn = ]

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 MRP subfamily which is involved in multidrug resistance.cite journal | author = O'Neill GM, Peters GB, Harvie RM, MacKenzie HB, Henness S, Davey RA | title = Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines | journal = Br. J. Cancer | volume = 77 | issue = 12 | pages = 2076–80 | year = 1998 | pmid = 9649117 | doi = | issn = ]

Pathology

Mutations in this protein cause pseudoxanthoma elasticum (PXE).cite journal | author = Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD | title = Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum | journal = Nat. Genet. | volume = 25 | issue = 2 | pages = 223–7 | year = 2000 | pmid = 10835642 | doi = 10.1038/76102 | issn = ] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.cite journal | author = Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD | title = A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum | journal = Am. J. Hum. Genet. | volume = 69 | issue = 4 | pages = 749–64 | year = 2001 | pmid = 11536079 | doi = | issn = ] cite journal | author = Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG | title = Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum | journal = | volume = | issue = | pages = | year = 2007 | pmid = 17617515 | doi = 10.1136/jmg.2007.051094 | issn = ]

Premature atherosclerosis is also associated with mutations in the "ABCC6" gene, even in those without PXE.cite journal | author=Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA | title=Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease | journal=Circulation | volume=106 | issue=7 | pages=773–5 | year=2002 | pmid=12176944 | doi= 10.1161/01.CIR.0000028420.27813.C0 | issn=]

References

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = no
update_citations = no