rs34404175
This variant is located in the GTSE1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European AncestryAssociationN=10,211Devanshi Patel et al.(2019)· JAMA Network Open
This whole-exome and whole-genome sequencing study identified rare coding mutations associated with Alzheimer disease (AD) and other dementias in 5617 European ancestry AD cases and 4594 controls. Key findings include a missense mutation in NOTCH3 (rs149307620, p.A284T) present in 11 AD cases but no controls, and a stop-gain mutation in TREM2 (rs104894002, p.Q33X) in 4 AD cases. The study identified 24 variants in 19 genes with moderate or high functional impact in AD cases but absent in controls, and found that AD participants had a significantly higher burden of deleterious rare variants in dementia-associated genes (P = 0.006).
About GTSE1
The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]
View all GTSE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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