| Entrez Gene ID |
84570 (NCBI Gene) |
| Official Gene Symbol |
COL25A1 (GeneCards) |
| Number of variants in COL25A1 in this database |
16 (view all the variants) |
| Full name |
collagen type XXV alpha 1 chain |
| Band |
4q25 |
| Other IDs |
Vega:
OTTHUMG00000150039
OMIM:
610004
HGNC:
HGNC:18603
Ensembl:
ENSG00000188517
|
| Other names |
AMY,
CLAC,
CLACP,
CFEOM5,
CLAC-P
|
| 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] |