Expression and characterization of disease-causing ABCC6 mutants

ABCC6 is a transmembrane protein primarily expressed in the hepatocytes. ABCC6 facilitates ATP efflux from hepatocytes to the circulation. ATP is hydrolyzed to PPi, an inhibitor of ectopic calcification. Several pathogenic mutations of the ABCC6 gene have been identified as the cause of PXE, an auto...

Full description

Saved in:
Bibliographic Details
Main Author:
Other Authors:
Format: Thesis
Language:English
Published: 2022-05-16
Subjects:
PXE
Online Access:http://hdl.handle.net/10831/91868?sublib=L_200
Tags: Add Tag
Be the first to tag this record!