SERPINF1
Chr 17ARserpin family F member 1
Also known as: EPC-1, OI12, OI6, PEDF, PIG35
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SERPINF1 · 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
Urinary Biomarkers of OI Pathobiology
ACTIVE NOT RECRUITINGStrategy for Improving Stroke Treatment Response
RECRUITINGPharmacogenomics of antiVEGF in Patients With Age-Associated Macular Degeneration (AMD)
RECRUITINGExternal Resources
Links to major genomics databases and tools