rs1799999
This is a variant in the PPP1R3A gene that changes a aspartate to an tyrosine.
▶ClinVar annotation
Insulin resistance, susceptibility to; PPP1R3A-related disorder; Type 2 diabetes mellitus
View on ClinVar →▶Research that mentions this SNP (1)
▶Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseAssociationN=374Srinivasan BS et al.(2009)· Human Mutation
This whole genome association study of 374 Caucasians identified a reproducibly associated axon guidance pathway for Parkinson disease, with rs3770208 (EPHA4, log OR=0.5, p=0.0002) and rs9867325 (EPHA7, log OR=0.61, p=8.65e-05) showing the strongest SNP-level associations. Pathway-level analysis with controlled multiple testing revealed ubiquitin-mediated proteolysis (AUC=0.66, p=0.01), T-cell receptor signaling (AUC=0.59, p=0.04), and axon guidance (AUC=0.60, p=0.05) pathways predictive of PD susceptibility. The axon guidance pathway replicated in an independent PD study.
About PPP1R3A
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]
View all PPP1R3A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…