COL1A1
Musculoskeletal System · Collagen Fibrillogenesis & Connective Tissue Tensile Strength
Why is COL1A1 important for both bones and skin?
COL1A1 makes one of the chains used to assemble type I collagen. This abundant structural protein strengthens bone, skin, tendons, and several other connective tissues.
- Common Gene Name
- collagen type I alpha 1 chain
- NCBI Gene ID
- 1277
- Chromosome
- 17
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (7 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| osteogenesis imperfecta | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-06-06 |
| COL1A1-related Ehlers-Danlos syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-10-03 |
| Caffey disease | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-09-28 |
| Ehlers-Danlos syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 | |
| Dermatofibrosarcoma protuberans | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 | |
| Intervertebral disc disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 | |
| Carpal tunnel syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2019-11 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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