COL25A1 collagen type XXV alpha 1 chain
Gene ID: 84570, updated on 5-Mar-2024Gene type: protein coding
Also known as: AMY; CLAC; CLACP; CFEOM5; CLAC-P
- See all available tests in GTR for this gene
- Go to complete Gene record for COL25A1
- Go to Variation Viewer for COL25A1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. GeneReviews: Not available | |
| Fibrosis of extraocular muscles, congenital, 5 | See labs |
| Genome-wide association analysis of age at onset in schizophrenia in a European-American sample GeneReviews: Not available | |
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. GeneReviews: Not available |
Genomic context
- Location:
- 4q25
- Sequence:
- Chromosome: 4; NC_000004.12 (108808725..109302658, complement)
- Total number of exons:
- 49
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL25A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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