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NEDGQS
Chr 2ARinositol polyphosphate-4-phosphatase type I A
Also known as: INPP4, NEDGQS, TVAS1
The protein is a magnesium-independent phosphatase that hydrolyzes phosphatidylinositol 3,4-bisphosphate and related inositol phosphates, which are critical signaling molecules in cellular processes. Mutations cause a neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech with autosomal recessive inheritance. This condition affects multiple systems including growth, motor function, and speech development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDGQS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDGQS · 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 →No publications found for NEDGQS
External Resources
Links to major genomics databases and tools