Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

ATP-Bindungskassette, Unterfamilie C (CFTR/MRP), Glied 6

Das ABCC6-gen kodiert einen ATP-abhängigen Transporter der an verschiedenen extra- und intrazellulären Membranen zu finden ist. Mutationen verursachen die autosomal rezessive generalisierte arterielle Verkalkung bei Kleinkindern 2.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Generalisierte arterielle Verkalkung bei Kleinkindern 2
ABCC6

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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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12.

Germain DP et al. (2001) Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

Bergen AA et al. (2006) Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

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34.

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

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35.

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

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36.

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

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37.

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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38.

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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39.

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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40.

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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41.

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

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42.

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

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43.

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

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44.

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

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45.

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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46.

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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47.

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

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48.

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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49.

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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50.

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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51.

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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52.

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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Update: 26. September 2018