COL4A1
Musculoskeletal System · Collagen Fibrillogenesis & Connective Tissue Tensile Strength
How is type IV collagen different from the collagen in tendons?
COL4A1 makes a component of type IV collagen, which forms flexible supporting networks. These networks are important in thin basement membranes beneath and around cells rather than simply forming thick tendon fibers.
- Common Gene Name
- collagen type IV alpha 1 chain
- NCBI Gene ID
- 1282
- Chromosome
- 13
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 (5 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| COL4A1-related disorder | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2024-02-12 |
| Anophthalmia/Microphthalmia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2011-09 | |
| COL4A1-related brain small-vessel disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2011-09 | |
| Familial porencephaly | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2011-09 | |
| Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2011-09 |
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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