PAPPA
Chr 9pappalysin 1
Also known as: ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
The protein is a secreted metalloproteinase that cleaves insulin-like growth factor binding proteins (IGFBPs) to release IGF and activate the IGF pathway, playing roles in bone formation, inflammation, wound healing, and fertility. Mutations cause autosomal recessive short stature with microcephaly and distinctive facies, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.354), suggesting that complete loss of protein function has severe developmental consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PAPPA · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools