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Weak cytoplasmic positivity was observed in some endometrial-, testicular-, colorectal- and lung cancers. Tumor stroma was often distinctly stained. Remaining malignant tissues were in general negative.
GENE INFORMATION
Gene name
COL4A1
Synonyms
Description
Collagen, type IV, alpha 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
