Defective ABCC6 causes PXE

Stable Identifier
R-HSA-5690338
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
ReviewStatus
5/5
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Defective ABCC6 causes PXE
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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

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

Surv Ophthalmol 2009
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
pseudoxanthoma elasticum DOID:2738 Gronblad-Strandberg syndrome
Authored
Jassal, B  (2015-04-28)
Reviewed
Shukla, S  (2015-09-15)
Created
Jassal, B  (2015-04-28)
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