PMID: 24277820

Jansen RS, Kucukosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K
ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20206-11. doi: 10.1073/pnas.1319582110. Epub 2013 Nov 25., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCC6 p.Val1298Phe
X
ABCC6 p.Val1298Phe 24277820:84:125
status: NEW
view ABCC6 p.Val1298Phe details
 hABCC6V1298F is properly routed to the plasma membrane, but its transport activity is <10% of that of WT hABCC6 owing to the V1298F mutation in one of its ATP-binding domains (12, 20). Login to comment 180 ABCC6 p.Val1298Phe
X
ABCC6 p.Val1298Phe 24277820:180:4
status: NEW
view ABCC6 p.Val1298Phe details
 The V1298F mutation was introduced into hABCC6 with the Quick Change II Site-Directed Mutagenesis Kit (Agilent), using the following primers: 5'-GAAGGTGGGCATCTTTGGCAGGACCGG-3' (forward) and 5'-CCGGTCCTGCCAAAGATGCCCACCTTC-3' (reverse). Login to comment