Reaction: Defective ABCC6 does not transport organic anion from cytosol to extracellular region
- in 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. The most frequent mutation in ABCC6 causing PXE is R1141X (Le Saux et al. 2000, 2001, Hu et al. 2003).
Reaction - small molecule participants:
H2O [cytosol]
ATP [cytosol]
organic anion [cytosol]
Reactome.org reaction link: R-HSA-5690340
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Reaction input - small molecules:
water
ATP(4-)
organic anion
Reaction output - small molecules:
Reactome.org link: R-HSA-5690340