Aliases for PTPN23 Gene
External Ids for PTPN23 Gene
Previous GeneCards Identifiers for PTPN23 Gene
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]
GeneCards Summary for PTPN23 Gene
PTPN23 (Protein Tyrosine Phosphatase Non-Receptor Type 23) is a Protein Coding gene. Diseases associated with PTPN23 include Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity and Cerebral Degeneration. Among its related pathways are PAK Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRS.
UniProtKB/Swiss-Prot Summary for PTPN23 Gene
Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351). May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552). Plays a role in ciliogenesis (PubMed:20393563).