rs2234253
This variant is located in the TREM2 gene.
▶ClinVar annotation
not provided; TREM2-related disorder; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
View on ClinVar →▶Research that mentions this SNP (1)
▶A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaquesReviewBart Dermaut et al.(2004)· Annals of Neurology
A systematic review of genetic, neuroimaging, and fluid biomarkers for frontotemporal dementia (FTD) across Latin American countries, analyzing 21 studies. The review identified key genetic mutations in C9orf72, GRN, MAPT, TREM2, TARDBP, and PSN-1 genes associated with FTD in LAC populations, including specific variants such as MAPT p.P301L and TREM2 p.W198X.
About TREM2
This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
View all TREM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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