COL25A1

Chr 4AR

collagen type XXV alpha 1 chain

Also known as: AMY, CFEOM5, CLAC, CLAC-P, CLACP

NCBI Gene: 84570ENSG00000188517UniProt: Q9BXS0OMIM: 610004

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Fibrosis of extraocular muscles, congenital, 5MIM #616219
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.30
OE 0.67 (0.51–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.45Z-score
OE missense 0.79 (0.72–0.87)
301 obs / 380.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.51–0.88)
0≤0.351.4
Missense OE?0.79 (0.72–0.87)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 37 / 55.5Missense obs/exp: 301 / 380.5Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COL25A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients