Gene Symbol | COL25A1 |
Entrez Gene ID | 84570 |
Full Name | collagen type XXV alpha 1 chain |
Synonyms | AMY,CFEOM5,CLAC,CLAC-P,CLACP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Fibrosis of extraocular muscles, congenital, 5, 616219 (3) |