| Autor: |
Bergen, Arthur A. B., Plomp, Astrid S., Xiaofeng Hu, de Jong, Paulus T. V. M., Gorgels, Theo G. M. F. |
| Předmět: |
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| Zdroj: |
Pflügers Archiv: European Journal of Physiology; Feb2007, Vol. 453 Issue 5, p685-691, 7p, 2 Color Photographs, 2 Diagrams, 1 Chart |
| Abstrakt: |
ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein family is involved in a large variety of physiological processes, such as signal transduction, protein secretion, drug and antibiotic resistance, and antigen presentation [Kool et al. () 59:175–182; Borst and Elferink () 71:537–592]. ABCC6 is primarily and highly expressed in the liver and kidney [Kool et al. () 59:175–182; Bergen et al. () 25:228–2231]. The precise physiological function and natural substrate(s) transported by ABCC6 are unknown, but the protein may be involved in active transport of intracellular compounds to the extracellular environment [Kool et al. () 59:175–182] [Scheffer et al. () 82:515–518]. Recently, it was shown that loss of function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE) [Bergen et al. () 25:228–2231; Le Saux et al. () 25:223–227]. PXE is an autosomal recessively inherited multi-organ disorder [Goodman et al. () 42:297–334; Lebwohl et al. () 30:103–107]. PXE is primarily associated with the accumulation of mineralized and fragmented elastic fibers of the connective tissue in the skin [Neldner () 6:1–159], Bruch’s membrane in the retina [Hu et al. () 48:424–438], and vessel walls [Kornet et al. () 30:1041–1048]. PXE patients usually have skin lesions and breaks in Bruch’s membrane of the retina (angioid streaks). Also, a variety of cardiovascular complications has been observed [Hu et al. () 48:424–438]. Recently, a mouse model for PXE was created by targeted disruption of Abcc6 [Gorgels et al. () 14:1763–1773; Klement et al. () 25:8299–8310], which may be useful to elucidate the precise function of Abcc6 and to develop experimental therapies. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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