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Center for Nephrology and Metabolic Disorders
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ATP-binding cassette, sub-family C (CFTR/MRP), member 6

The ABCC6 gene encodes an ATP-dependet transport protein across various extra- and intracellular membranes. Mutations cause autosomal recessive generalized arterial calcification of infancy 2.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Generalized arterial calcification of infancy 2
ABCC6

References:

1.

Jiang Q et al. (2007) Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.

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2.

Hu X et al. (2004) Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

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3.

Gorgels TG et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

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4.

Beck K et al. (2005) Analysis of ABCC6 (MRP6) in normal human tissues.

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5.

Chassaing N et al. (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

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6.

Miksch S et al. (2005) Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

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7.

Klement JF et al. (2005) Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.

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8.

Matsuzaki Y et al. (2005) Tissue-specific expression of the ABCC6 gene.

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9.

Jiang Q et al. (2006) Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.

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10.

None (2006) Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

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11.

Le Saux O et al. (2006) Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.

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12.

Jiang Q et al. (2006) Pseudoxanthoma elasticum: a metabolic disease?

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13.

Ratajewski M et al. (2006) Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor.

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14.

Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

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15.

Meng H et al. (2007) Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics.

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16.

Pfendner EG et al. (2007) Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

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17.

Aherrahrou Z et al. (2008) An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice.

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18.

Jiang Q et al. (2009) Pseudoxanthoma elasticum is a metabolic disease.

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19.

Ratajewski M et al. (2008) The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors.

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20.

Torrington M et al. (1991) Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum.

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21.

Plomp AS et al. (2009) Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

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22.

Costrop LM et al. (2010) Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

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23.

Longhurst TJ et al. (1996) The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line.

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24.

van Soest S et al. (1997) A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

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25.

Kuss BJ et al. (1998) 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.

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26.

Kool M et al. (1999) Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

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27.

Chassaing N et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum.

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28.

Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

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29.

Li Q et al. (2009) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

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30.

Belinsky MG et al. (1999) MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.

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31.

Klein I et al. (1999) An inventory of the human ABC proteins.

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32.

Bacchelli B et al. (1999) Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).

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33.

Cai L et al. (2000) A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

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34.

Ringpfeil F et al. (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

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35.

Le Saux O et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

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36.

Bergen AA et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum.

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37.

Germain DP et al. (2000) Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

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38.

Ringpfeil F et al. (2001) Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

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39.

Sherer DW et al. (2001) Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.

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40.

None (2001) Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

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41.

Plomp AS et al. (2004) Does autosomal dominant pseudoxanthoma elasticum exist?

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42.

Sinkó E et al. (2003) Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

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43.

Hu X et al. (2003) Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

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44.

Hu X et al. (2003) ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

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45.

Belinsky MG et al. (2002) Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

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46.

Le Saux O et al. (2002) Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

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47.

Trip MD et al. (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.

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48.

Iliás A et al. (2002) Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

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49.

Pulkkinen L et al. (2001) Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

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50.

Le Saux O et al. (2001) A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

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51.

Ringpfeil F et al. (2001) Molecular genetics of pseudoxanthoma elasticum.

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52.

Meloni I et al. (2001) Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

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53.

NCBI article

NCBI 368 external link
54.

OMIM.ORG article

Omim 603234 external link
55.

Orphanet article

Orphanet ID 117658 external link
56.

Wikipedia article

Wikipedia EN (ABCC6) external link
Update: Aug. 14, 2020
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