ATP Binding Cassette Transporter C6 (ABCC6)

ABC-C6; ABC34; ARA; MLP1; MOATE; MRP6; PXE; PXE1; Pseudoxanthoma Elasticum

SPN	T158
HGNC	57
MGI	1351634
PubMed	10835643
RGD	620268
UniProt	O95255
Wiki	ABCC6

Multidrug resistance-associated protein 6 is 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 MRP subfamily which is involved in multidrug resistance.Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE). PXE is a disorder characterized by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration.

Reference

"MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver."
Br. J. Cancer 80:1342-1349(1999) [PubMed] [Europe PMC] [Abstract]

"Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells."
Cancer Res. 59:175-182(1999) [PubMed] [Europe PMC] [Abstract]

"A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival."
Hepatology 34:146-157(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of a new splice variant of the human ABCC6 transporter."
Biochem. Res. Int. 2008:912478-912478(2008) [PubMed] [Europe PMC] [Abstract]

"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q."
Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract]

"The sequence and analysis of duplication-rich human chromosome 16."
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)."
J. Biol. Chem. 277:16860-16867(2002) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?"
Trends Mol. Med. 7:13-17(2001) [PubMed] [Europe PMC] [Abstract]

"Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells."
Biochem. Biophys. Res. Commun. 308:263-269(2003) [PubMed] [Europe PMC] [Abstract]

"ABCC6 is a basolateral plasma membrane protein."
Circ. Res. 112:E148-E151(2013) [PubMed] [Europe PMC] [Abstract]

"The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane."
FEBS Lett. 587:3058-3062(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing."
Biochem. Biophys. Res. Commun. 274:297-301(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?"
Hum. Mutat. 16:449-449(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum."
J. Mol. Med. 78:282-286(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum."
Nat. Genet. 25:223-227(2000) [PubMed] [Europe PMC] [Abstract]

"Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter."
Proc. Natl. Acad. Sci. U.S.A. 97:6001-6006(2000) [PubMed] [Europe PMC] [Abstract]

"A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum."
Am. J. Hum. Genet. 69:749-764(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum."
Hum. Genet. 109:356-365(2001) [PubMed] [Europe PMC] [Abstract]

"ABCC6 gene polymorphism associated with variation in plasma lipoproteins."
J. Hum. Genet. 46:699-705(2001) [PubMed] [Europe PMC] [Abstract]

"Does autosomal dominant pseudoxanthoma elasticum exist?"
Am. J. Med. Genet. A 126:403-412(2004) [PubMed] [Europe PMC] [Abstract]

"ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)."
Hum. Mutat. 24:438-439(2004) [PubMed] [Europe PMC] [Abstract]

"Novel ABCC6 mutations in pseudoxanthoma elasticum."
J. Invest. Dermatol. 122:608-613(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
Hum. Mutat. 26:235-248(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum."
J. Med. Genet. 44:621-628(2007) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]

"Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals."
J. Dermatol. Sci. 54:198-204(2009) [PubMed] [Europe PMC] [Abstract]

"An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy."
Am. J. Med. Genet. A 152:118-123(2010) [PubMed] [Europe PMC] [Abstract]

"Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6."
Am. J. Hum. Genet. 90:25-39(2012) [PubMed] [Europe PMC] [Abstract]

"Genetic heterogeneity of pseudoxanthoma elasticum: the chinese signature profile of ABCC6 and ENPP1 mutations."
J. Invest. Dermatol. 0:0-0(2015) [PubMed] [Europe PMC] [Abstract]