FURIN
Chr 15furin, paired basic amino acid cleaving enzyme
Also known as: FUR, PACE, PCSK3, SPC1
The FURIN protein is an endoprotease that cleaves protein precursors at specific basic amino acid sequences within the secretory pathway, processing substrates including growth factors, hormones, and other signaling molecules. Pathogenic variants cause autosomal dominant developmental delay with variable intellectual disability, behavioral abnormalities, and distinctive facial features. This gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular protein processing.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FURIN · 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
External Resources
Links to major genomics databases and tools