Anti-PYGL Antibody Picoband® Fluoro550 Conjugated

Glycogen phosphorylase, liver form (PYGL), also known as human liver glycogen phosphorylase (HLGP), is an enzyme that in humans is encoded by the PYGL gene on chromosome 14. This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.

1. Burwinkel, B., Bakker, H. D., Herschkovitz, E., Moses, S. W., Shin, Y. S., Kilimann, M. W. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease) . Am. J. Hum. Genet. 62: 785-791, 1998. 2. Chang, S., Rosenberg, M. J., Morton, H., Francomano, C. A., Biesecker, L. G. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum. Molec. Genet. 7: 865-870, 1998. 3. Ercan-Fang, N., Gannon, M. C., Rath, V. L., Treadway, J. L., Taylor, M. R., Nuttall, F. Q. Integrated effects of multiple modulators on human liver glycogen phosphorylase alpha. Am. J. Physiol. Endocr. Metab. 283: E29-E37, 2002.