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

NEDBASS

Chr 3

protein tyrosine phosphatase non-receptor type 23

Also known as: HD-PTP, HDPTP, NEDBASS, PTP-TD14

NCBI Gene: 25930

The protein is a non-receptor protein-tyrosine phosphatase that regulates small nuclear ribonucleoprotein assembly and pre-mRNA splicing through modification of the survival motor neuron (SMN) complex, and also functions in ciliogenesis and endosomal sorting pathways. Mutations cause a neurodevelopmental disorder with structural brain anomalies that may include seizures and spasticity, inherited in an autosomal recessive pattern.

ResearchSummary from RefSeq, OMIM

This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (3)