rs5368
This is a variant in the SELE gene that changes a histidine to an tyrosine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Candidate gene analysis of selectin cluster in patients with multiple sclerosisAssociationN=486Chiara Fenoglio et al.(2009)· Journal of Neurology
Candidate gene analysis of three SNPs (rs6133, rs4987310, rs5368) in selectin genes (P-selectin, L-selectin, E-selectin) in Italian (165 MS patients, 149 controls) and American (122 MS patients, 50 controls) populations found no significant association with multiple sclerosis susceptibility in Caucasians, despite selectins' known role in MS pathogenesis.
About SELE
The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
View all SELE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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