rs33957402
This variant is located in the EIF2AK3 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral densityAssociationN=1,884Jie Liu et al.(2012)· Journal of Bone and Mineral Research
This association study identified a functional haplotype in EIF2AK3, an ER stress sensor gene, associated with lower bone mineral density (BMD). The nonsynonymous SNP rs13045 (R166Q) showed association with decreased forearm BMD in both Amish (β = -0.007, P = 0.036) and Mexican American (β = -0.008, P = 0.031) cohorts, achieving statistical significance in meta-analysis (P = 0.003). Functional studies demonstrated that haplotype B containing rs13045 and related SNPs increased sensitivity to ER stress in lymphoblastoid cells (P = 0.014).
About EIF2AK3
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
View all EIF2AK3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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