ECM1
Chr 1ARextracellular matrix protein 1
Also known as: URBWD
ECM1 encodes a soluble extracellular protein that regulates bone mineralization, promotes angiogenesis by stimulating endothelial cell proliferation, and inhibits MMP9 proteolytic activity. Biallelic mutations cause Urbach-Wiethe disease (lipoid proteinosis), an autosomal recessive disorder characterized by generalized thickening of skin, mucosae, and certain viscera. The gene shows tolerance to loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
208 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 22 | 0 | 10 | 0 | 32 |
Likely Pathogenic | 8 | 3 | 1 | 0 | 12 |
VUS | 1 | 91 | 6 | 0 | 98 |
Likely Benign | 0 | 7 | 6 | 11 | 24 |
Benign | 0 | 6 | 18 | 4 | 28 |
Conflicting | — | 1 | |||
| Total | 31 | 107 | 41 | 15 | 195 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ECM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools