PPP1R3G

Chr 6

protein phosphatase 1 regulatory subunit 3G

NCBI Gene: 648791 ENSG00000219607 UniProt: B7ZBB8 OMIM: 619541

This protein serves as a glycogen-targeting subunit for protein phosphatase 1 and regulates hepatic glycogen synthesis in response to fasting and feeding cycles. The gene is not highly constrained against loss-of-function variation, with mutations causing autosomal recessive glycogen storage disease with prominent hepatic involvement. Patients typically present with hepatomegaly, hypoglycemia, and growth retardation related to impaired glucose homeostasis.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable glycogen binding activity and protein phosphatase 1 binding activity. Predicted to be involved in regulation of glycogen biosynthetic process. Predicted to act upstream of or within glucose homeostasis; positive regulation of glycogen (starch) synthase activity; and positive regulation of glycogen biosynthetic process. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.61

LOEUF

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Mechanism