rs9381439
This is a intron variant variant in the PHACTR1 gene.
▶Research that mentions this SNP (1)
▶Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndromeFunctionalDreja T. et al.(2010)· Diabetologia
This functional study used New Zealand obese mice fed high-fat (HF) or carbohydrate-free high-fat (CHF) diets to identify candidate genes and pathways involved in diet-induced type 2 diabetes. Laser capture microdissection of pancreatic islets revealed 2,109 differentially expressed genes; 39 of these correlated with human genome-wide association studies (DGI and WTCCC), including validated hits such as IGF2BP2 and TSPAN8. The most significant finding was upregulation of oxidative phosphorylation genes in response to HF diet, implicating glucose-induced oxidative stress in beta cell failure.
About PHACTR1
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
View all PHACTR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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