rs200788986
This is a protein-altering variant in the MUC1 gene.
▶Research that mentions this SNP (1)
▶Mucin gene polymorphisms are associated with endometriosis in Korean womenAssociationN=56Jin-Ho Kim et al.(2020)· Archives of Gynecology and Obstetrics
This case-control study examined the association between MUC1 and MUC4 gene polymorphisms and endometriosis risk in 29 Korean women with endometriosis and 27 controls. Individual SNPs in MUC1 and MUC4 were not significantly associated with endometriosis, but a MUC4 triple haplotype (rs2291653/rs2291654/rs375068067 with T/T/C genotype) showed significant association with increased endometriosis risk (p=0.010, OR 9.435, 95% CI 0.442-201.3).
About MUC1
This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
View all MUC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…