Pathway
Defective ABCC6 causes PXE
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.
REACT:R-HSA-5690338Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective ABCC6 causes PXE · Sources: Reactome
- ABCC6 participates in Defective ABCC6 causes PXEProteinReactome R-HSA-5690338Inferred only