COL27A1
Chr 9ARcollagen type XXVII alpha 1 chain
Also known as: STLS
The protein is a fibrillar collagen that functions during cartilage calcification and the transition of cartilage to bone. Autosomal recessive mutations cause Steel syndrome, a skeletal dysplasia characterized by bone and cartilage abnormalities. The pathogenic mechanism involves disruption of normal bone and cartilage development due to defective collagen function.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL27A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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