Aliases for COL25A1 Gene
External Ids for COL25A1 Gene
Previous GeneCards Identifiers for COL25A1 Gene
This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for COL25A1 Gene
COL25A1 (Collagen Type XXV Alpha 1) is a Protein Coding gene. Diseases associated with COL25A1 include fibrosis of extraocular muscles, congenital, 5 and congenital fibrosis of the extraocular muscles. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. GO annotations related to this gene include heparin binding and beta-amyloid binding. An important paralog of this gene is COL21A1.
UniProtKB/Swiss-Prot for COL25A1 Gene
Inhibits fibrillization of beta amyloid peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.