ASAP1
Chr 8ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Also known as: AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
The ASAP1 protein functions as a GTPase-activating protein that regulates ARF1 and ARF5 to coordinate membrane trafficking, cytoskeleton remodeling, and ciliogenesis. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that ASAP1 mutations are likely to have significant clinical consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASAP1 · 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