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ABCC6

Thursday 25 August 2005

Pathology

- ABCC6 germline mutations in pseudoxanthoma elasticum

  • Pseudoxanthoma elasticum (PXE) is a hereditary disorder of elastic tissue affecting the elastic fibers of the skin, eyes and cardiovascular system. The affected organs become progressively calcified.
  • Pseudoxanthoma elasticum is due to a germline mutation in the MRP6/ABCC6 gene, a member of the ABC transporter family (ABCs), expressed primarily in the liver and the kidneys.

References

- Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. Kieć-Wilk B, Surdacki A, Dembińska-Kieć A, Michalowska J, Stachura-Dereń M, Dubiel JS, Dudek D, Rakowski T, Szastak G, Bodzioch M, Aslanidis C, Schmitz G. Int J Cardiol. 2007 Mar 20;116(2):261-2. PMID: 16854481

- Uitto J. The gene family of ABC transporters - novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. PMID: 15996518