Gene Symbol | EPCAM |
Entrez Gene ID | 4072 |
Full Name | epithelial cell adhesion molecule |
Synonyms | DIAR5,EGP-2,EGP314,EGP40,ESA,HNPCC8,KS1/4,KSA,M4S1,MIC18,MK-1,TACSTD1,TROP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Diarrhea 5, with tufting enteropathy, congenital, 613217 (3); Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) |