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Official Full Name: mucin 1, cell surface associated
Also known as: EMA; MCD; PEM; PUM; KL-6; MAM6; MCKD; PEMT; CD227; H23AG; MCKD1; MUC-1; ADMCKD; ADTKD2; Ca15-3; ADMCKD1; CA 15-3; MUC-1/X; MUC1/ZD; MUC-1/SEC
This gene encodes a membrane-bound protein, a member of the mucin family. Mucin is an O-glycosylated protein that plays an important role in forming a protective mucosal barrier on epithelial surfaces. These proteins also play a role in intracellular signaling. The protein is expressed on the apical surface of epithelial cells, which line the mucosal surface of many different tissues, including lung, breast, stomach and pancreas. The protein is proteolytically cleaved into α and β subunits, forming a heterodimeric complex. The N-terminal α subunit is involved in cell adhesion and the C-terminal β subunit is involved in cell signaling. Overexpression, abnormal intracellular localization, and changes in glycosylation of this protein are associated with cancer. This gene is known to contain a highly polymorphic variable number tandem repeat (VNTR) domain. Alternate splicing results in multiple transcript variants.