PTPN20

Chr 10

protein tyrosine phosphatase non-receptor type 20

Also known as: CT126, PTPN20A, PTPN20B, bA142I17.1, bA42B19.1

NCBI Gene: 26095 ENSG00000204179 UniProt: Q4JDL3

The protein is a tyrosine-specific protein phosphatase that targets sites of actin polymerization and dephosphorylates various tyrosyl phosphorylated substrates in response to extracellular stimuli. Based on available data, no definitive disease associations or inheritance patterns have been established for PTPN20 mutations in pediatric neurological disorders. The gene shows low constraint against loss-of-function variants, suggesting it may tolerate such changes without causing severe developmental phenotypes.

ResearchSummary from RefSeq, UniProt

The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)