INPP5A
Chr 10inositol polyphosphate-5-phosphatase A
Also known as: 5PTASE
The protein is a membrane-associated phosphatase that hydrolyzes inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, terminating calcium signaling cascades and playing a crucial role in cerebellar Purkinje cell survival. Mutations cause autosomal recessive congenital muscular dystrophy with intellectual disability, cerebellar hypoplasia, and cataracts, typically presenting in infancy with hypotonia and developmental delays. This gene is highly constrained against loss-of-function variants, indicating that complete loss of function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
INPP5A · 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