Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations

The human ABCC6 gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines. We review here the mechanisms of this restricted tissue-specific expression and the role of hepatocyte nuclear factor 4α which is responsible for the exp...

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Bibliographic Details
Main Authors: Tamás eArányi, Caroline eBacquet, Hugues ede Boussac, Marcin eRatajewski, Viola ePomozi, Krisztina eFülöp, Christopher N Brampton, Lukasz ePulaski, Olivier eLe Saux, András eVáradi
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-03-01
Series:Frontiers in Genetics
Subjects:
Pseudoxanthoma Elasticum
calcification
ABCC6
HNF4alpha
4-phenyl-butyrate
C/EBPbeta
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00027/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00027/full

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