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cDNA Cloning of a Liver Isoform of the Phosphorylase Kinase α Subunit and Mapping of the Gene to Xp22.2-p22.1, the Region of Human X-Linked Liver Glycogenosis
Jutta J. Davidson, Tayfun Ozcelik, Christiane Hamacher, Patrick J. Willems, Uta Francke and Manfred W. Kilimann
Proceedings of the National Academy of Sciences of the United States of America
Vol. 89, No. 6 (Mar. 15, 1992), pp. 2096-2100
Published by: National Academy of Sciences
Stable URL: http://www.jstor.org/stable/2358650
Page Count: 5
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We have cloned cDNA molecules encoding another isoform of the α subunit of phosphorylase kinase (ATP:phosphorylase-b phosphotransferase, EC 22.214.171.124). 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.
Proceedings of the National Academy of Sciences of the United States of America © 1992 National Academy of Sciences