rs755933225
This variant is located in the PYGB gene.
▶ClinVar annotation
About PYGB
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
View all PYGB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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