Gene: PYGL

Alternate names for this Gene: GSD6

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.1

Description of this Gene: glycogen phosphorylase L

Type of Gene: protein-coding

rs35026927 in PYGL gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs113993981 in PYGL gene and Glycogen Storage Disease Type VI PMID 9536091 1998 Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

PMID 21646031 2012 Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

PMID 9529348 1998 Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

PMID 25266922 2014 The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

rs7142143 in PYGL gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 23007406 2012 Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.

rs17123039 in PYGL gene and Sodium measurement PMID 31409800 2019 GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.