ABCMdb

PMID: 24782769

Chiabrando D, Vinchi F, Fiorito V, Mercurio S, Tolosano E
Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes.
Front Pharmacol. 2014 Apr 8;5:61. doi: 10.3389/fphar.2014.00061. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

536 ABCG2 p.Gln141Lys Genetic studies identified a SNP in the exon 5 of ABCG2 gene that leads to a glutamine-to-lysine amino acid substitution (Q141K) (Dehghan et al., 2008). Login to comment 537 ABCG2 p.Gln141Lys ABCG2 p.Gln141Lys The Q141K variant has been shown to have a significant reduced capacity to transport urate and, when expressed in mammalian cells, Q141K ABCG2 expression is significantly lower than that of wild-type protein (Imai et al., 2002; Mizuarai et al., 2004; Morisaki et al., 2005; Woodward et al., 2009). Login to comment