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 Chain) is a Protein Coding gene. Diseases associated with COL25A1 include Fibrosis Of Extraocular Muscles, Congenital, 5 and Congenital Ptosis. Among its related pathways are ERK Signaling and T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. Gene Ontology (GO) annotations related to this gene include heparin binding and amyloid-beta binding. An important paralog of this gene is COL5A3.
UniProtKB/Swiss-Prot Summary for COL25A1 Gene
Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.