Defective ABCC6 causes pseudoxanthoma elasticum (PXE)

Stable Identifier
R-HSA-5690338
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

The multidrug resistance associated protein (MRPs) subfamily of the ABC transporter family can transport a wide and diverse range of organic anions that can be endogenous compounds and xenobiotics and their metabolites. The multidrug resistance-associated protein 6 (ABCC6 aka MOAT-E) can actively transport organic anions. Defects in ABCC6 can cause pseudoxanthoma elasticum (PXE; MIM:264800), a rare multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vasculature and the Burch membrane of the eye (Finger et al. 2009).

Literature References
PubMed ID Title Journal Year
19298904 Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches

Finger, RP, Charbel Issa, P, Ladewig, MS, Götting, C, Szliska, C, Scholl, HP, Holz, FG

Surv Ophthalmol 2009
Participants
Participant Of
Disease
Name Identifier Synonyms
pseudoxanthoma elasticum 2738 Gronblad-Strandberg syndrome
Authored
Reviewed
Created