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 |
Verknüpfte Erkrankungen:
Referenzen:
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. |
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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. |
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27. |
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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. |
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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41. |
None (2001) Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.
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42. |
Ringpfeil F et al. (2001) Molecular genetics of pseudoxanthoma elasticum.
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43. |
Le Saux O et al. (2001) A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
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44. |
Pulkkinen L et al. (2001) Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
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45. |
Iliás A et al. (2002) Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
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46. |
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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47. |
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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48. |
Belinsky MG et al. (2002) Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).
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49. |
Hu X et al. (2003) ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
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50. |
Hu X et al. (2003) Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
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51. |
Sinkó E et al. (2003) Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.
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52. |
Plomp AS et al. (2004) Does autosomal dominant pseudoxanthoma elasticum exist?
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53. |
NCBI article
NCBI 368
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54. |
OMIM.ORG article
Omim 603234
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55. |
Orphanet article
Orphanet ID 117658
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Update: 14. August 2020