Synonyms: ADMCKD,ADMCKD1,Breast carcinoma associated antigen DF3,Breast carcinoma-associated antigen DF3,CA 15-3,CA15 3,CA15 3 antigen,CA15.3,Cancer antigen 15-3,Carcinoma associated mucin,Carcinoma-associated mucin,CD 227,CD227,DF3 antigen,EMA,Episialin,H23 antigen,H23AG,KL 6,KL-6,KL6,Krebs von den Lungen-6,MAM 6,MAM6,MCD,MCKD,MCKD1,Medullary cystic kidney disease 1 (autosomal dominant),Medullary cystic kidney disease,autosomal dominant,MUC 1,MUC-1,MUC-1/SEC,MUC-1/X,MUC1,MUC1-alpha,MUC1-beta,MUC1-CT,MUC1-NT,MUC1/ZD,MUC1,Mucin 1,Mucin 1 transmembrane,Mucin 1,cell surface associated,Mucin-1 subunit beta,Peanut reactive urinary mucin,Peanut-reactive urinary mucin,PEM,PEMT,Polymorphic epithelial mucin,PUM,Tumor associated epithelial membrane antigen,Tumor associated epithelial mucin,Tumor associated mucin,Tumor-associated epithelial membrane antigen,Tumor-associated mucin
Background: 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.