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A single case of cholangiocarcinoma showed strong dot like cytoplasmic staining. Few cases of urothelial and cervix cancers displayed weak to moderate cytoplasmic positivity. Remaining cancer tissues were negative.
Few cases each of melanomas, urothelial, endometrial and renal cancer displayed weak cytoplasmic positivity. Remaining cancer tissues were negative.
GENE INFORMATION
Gene name
COL7A1 (HGNC Symbol)
Synonyms
EBD1, EBDCT, EBR1
Description
Collagen, type VII, alpha 1 (HGNC Symbol)
Entrez gene summary
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)