Title
Cdna cloning of a liver isoform of the phosphorylase-kinase alpha-subunit and mapping of the gene to xp22.2-p22.1, the region of human x-linked liver glycogenosis Cdna cloning of a liver isoform of the phosphorylase-kinase alpha-subunit and mapping of the gene to xp22.2-p22.1, the region of human x-linked liver glycogenosis
Author
Publication type
article
Publication
Washington, D.C. ,
Subject
Pure sciences. Natural sciences (general)
Source (journal)
AMERICA
Proceedings of the National Academy of Sciences of the United States of America. - Washington, D.C.
Volume/pages
89() :6 , p. 2096-2100
ISSN
0027-8424
ISI
A1992HJ05300021
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
We have cloned cDNA molecules encoding another isoform of the a subunit of phosphorylase kinase (ATP:phosphorylase-b phosphotransferase, EC 2.7.1.38). Sequence comparison with the previously characterized muscle isoform reveals a pattern of highly conserved and variable domains and demonstrates that the isoforms are the products of distinct genes. In contrast to the muscle isoform gene, PHKA1, the gene of this additional isoform, PHKA2, is predominantly expressed in liver and other nonmuscle tissues. It was mapped to the distal short arm of the human X chromosome (Xp22.2-p22.1), the same region to which human X-linked liver glycogenosis due to phosphorylase kinase deficiency has been mapped. Thus, X-linked liver glycogenosis is probably caused by mutations affecting PHKA2.
E-info
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