Gene: PTPN23

Alternate names for this Gene: HD-PTP|HDPTP|NEDBASS|PTP-TD14

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: protein tyrosine phosphatase non-receptor type 23

Type of Gene: protein-coding

rs6780013 in PTPN23 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.