Publication
Title
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver a subunit of phosphorylase kinase
Author
Abstract
X-linked liver glycogenosis type II (XLG II) is a recently described X-linked liver glycogen storage disease, mainly characterized by enlarged liver and growth retardation, These clinical symptoms are very similar to those of XLG I, In contrast to XLG I patients, however, XLG II patients do not show an in vitro enzymatic deficiency of phosphorylase kinase (PHK), Recently, mutations were identified in the gene encoding the liver a subunit of PHK (PHKA2) in XLG I patients, We have now studied the PHKA2 gene of four unrelated XLG II patients and identified four different mutations in the open reading frame, including a deletion of three nucleotides, an insertion of six nucleotides and two missense mutations, These results indicate that XLG II is due to mutations in PHKA2, In contrast to XLG I, XLG II is caused by mutations that lead to minor structural abnormalities in the primary structure of the liver a subunit of PHK, These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that might be involved in the regulation of PHK, These findings might explain why the in vitro PHK enzymatic activity is not deficient in XLG II, whereas it is in XLG I.
Language
English
Source (journal)
Human molecular genetics. - Oxford
Publication
Oxford : 1996
ISSN
0964-6906
Volume/pages
5:5, p. 649-652
ISI
A1996UJ74300013
Full text (Publishers DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 29.02.2012
Last edited 08.03.2017