COL25A1 Chromosome 4
Collagen type XXV alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL25A1.
What This Gene Does
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]
Gene Info
Gene Group
Membrane associated collagens with interrupted triple helices
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000188517
Associated Conditions (4)
Fibrosis of extraocular muscles
congenital
5
Arthrogryposis
Key Variants
RS1274380766
Likely pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
RS2125927453
Likely pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
RS759316372
Likely pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
RS2476579225
Pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
RS2477132619
Pathogenic
Health Risk
RS780209390
Pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
RS886037741
Pathogenic
Fibrosis of extraocular muscles, congenital, 5
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1274380766 | Health Risk | Likely pathogenic | Fibrosis of extraocular muscles, congenital, 5 |
| RS2125927453 | Health Risk | Likely pathogenic | Fibrosis of extraocular muscles, congenital, 5 |
| RS759316372 | Health Risk | Likely pathogenic | Fibrosis of extraocular muscles, congenital, 5 |
| RS2476579225 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 5 |
| RS2477132619 | Health Risk | Pathogenic | — |
| RS780209390 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 5 |
| RS886037741 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 5 |