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 2

inositol polyphosphate-4-phosphatase type I A

Also known as: INPP4, NEDGQS, TVAS1

NCBI Gene: 3631

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.

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (3)