Gene: ABCC6

Alternate names for this Gene: ABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7

Gene Summary: The 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: ATP binding cassette subfamily C member 6

Type of Gene: protein-coding

rs537233133 in ABCC6 gene and ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

rs63750459 in ABCC6 gene and Abnormality of the eye PMID 12673275 2003 ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

PMID 11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

rs138760312 in ABCC6 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28939701 in ABCC6 gene and Pseudoxanthoma Elasticum PMID 16086317 2005 Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

PMID 11880368 2002 Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

PMID 15459974 2004 ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).

PMID 15098239 2004 Does autosomal dominant pseudoxanthoma elasticum exist?

PMID 17617515 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

PMID 20034067 2010 An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

PMID 10954200 2000 Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

PMID 19339160 2009 Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

PMID 25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.

PMID 15086542 2004 Novel ABCC6 mutations in pseudoxanthoma elasticum.

PMID 10811882 2000 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

PMID 11702217 2001 Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

PMID 11427982 2001 Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

PMID 10835642 2000 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

PMID 11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

PMID 19339160 2009 The Afrikaner founder mutation, R1339C, was present in 0.41 of white ABCC6 PXE alleles, confirming the founder effect and its presence in both Afrikaans- (34/63 PXE alleles) and English-speakers (4/28).

PMID 31240106 2019 A novel ABCC6 variant causative of pseudoxanthoma elasticum.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 11439001 2001 Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum.

PMID 11439001 2001 Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum.

PMID 11702217 2001 The use of allele-specific PCR has revealed, thus far, two novel 5'-end PXE mutations, 179del9 and T364R in exons 2 and 9, respectively, and several polymorphisms within the upstream region and exons 1-9 of ABCC6.

rs72650700 in ABCC6 gene and Pseudoxanthoma Elasticum, Incomplete PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 11439001 2001 Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

rs41278174 in ABCC6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.