PPP1R3A Chromosome 7
Protein phosphatase 1 regulatory subunit 3A
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What This Gene Does
The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000154415
Associated Conditions (6)
GLYCEMIA VARIATION
Monogenic diabetes
Insulin resistance
susceptibility to
Type 2 diabetes mellitus
PPP1R3A-related disorder
Key Variants
RS386716957
association
GLYCEMIA VARIATION, GLYCEMIA VARIATION
Health Risk
RS138812345
Conflicting classifications of pathogenicity
Monogenic diabetes, Monogenic diabetes
Health Risk
RS146092707
Conflicting classifications of pathogenicity
Health Risk
RS1799999
Conflicting classifications of pathogenicity
Insulin resistance, susceptibility to, Type 2 diabetes mellitus
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS386716957 | Health Risk | association | GLYCEMIA VARIATION, GLYCEMIA VARIATION |
| RS138812345 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Monogenic diabetes |
| RS146092707 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1799999 | Health Risk | Conflicting classifications of pathogenicity | Insulin resistance, susceptibility to, Type 2 diabetes mellitus |