Defective ABCC6 does not transport organic anion from cytosol to extracellular region

Stable Identifier
Reaction [transition]
Homo sapiens
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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. The most frequent mutation in ABCC6 causing PXE is R1141X (Le Saux et al. 2000, 2001, Hu et al. 2003).
Literature References
PubMed ID Title Journal Year
12714611 Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum

Scheffer, G, Peek, R, Leys, A, Plomp, A, ten Brink, Jt, de Jong, PT, van Soest, S, Bergen, AA, Hu, X

Invest. Ophthalmol. Vis. Sci. 2003
10835642 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Richards, A, Quaglino, D, Le Saux, O, Pope, FM, De Paepe, A, Terry, S, Csiszar, K, Boyd, CD, Bacchelli, B, Tschuch, C, Urban, Z, Bercovitch, L, Pasquali-Ronchetti, I

Nat. Genet. 2000
11536079 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

Silvestri, C, Le Saux, O, Pope, FM, Beck, K, De Paepe, A, Johnson, EW, Treiber, C, Terry, SF, Boyd, CD, Göring, HH, Marais, AS, Sachsinger, C, Bercovitch, L, Pasquali-Ronchetti, I, Viljoen, DL

Am. J. Hum. Genet. 2001
Catalyst Activity

ATPase-coupled inorganic anion transmembrane transporter activity of ABCC6 R1141* [plasma membrane]

Normal reaction
Functional status

Loss of function of ABCC6 R1141* [plasma membrane]

Name Identifier Synonyms
pseudoxanthoma elasticum DOID:2738 Gronblad-Strandberg syndrome
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