PTP4A3

Chr 8

protein tyrosine phosphatase 4A3

Also known as: PRL-3, PRL-R, PRL3

NCBI Gene: 11156 ENSG00000184489 UniProt: O75365

The protein is a tyrosine phosphatase that regulates cell cycle progression from G1 to S phase and enhances cell proliferation and motility. Mutations cause autosomal recessive intellectual disability with neurodegeneration and brain atrophy, typically presenting in early childhood. The gene shows low constraint to loss-of-function variants, consistent with a recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)