Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

NEDGQS

Chr 2AR

inositol polyphosphate-4-phosphatase type I A

Also known as: INPP4, NEDGQS, TVAS1

NCBI Gene: 3631 OMIM: 621354

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— NEDGQS

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDGQS?content-type=application/json&expand=1

gnomad: Error: Gene not found