PMID: 17300812

Gradhand U, Tegude H, Burk O, Eichelbaum M, Fromm MF, Konig J
Functional analysis of the polymorphism -211C>T in the regulatory region of the human ABCC3 gene.
Life Sci. 2007 Mar 27;80(16):1490-4. Epub 2007 Jan 20., [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCC3 p.Arg1297His
X
ABCC3 p.Arg1297His 17300812:26:32
status: NEW
view ABCC3 p.Arg1297His details
 While the polymorphism 3890ANG (Arg1297His) has no effect on the protein localization or the transport function (Lee et al., 2004), the polymorphism -211CNT, located in the 5'-regulatory region of the ABCC3 gene, was associated with significantly lower ABCC3 transcript levels and a trend towards lower protein expression in human liver. Login to comment