PPP1R16A

Chr 8

protein phosphatase 1 regulatory subunit 16A

Also known as: MYPT3

NCBI Gene: 84988 ENSG00000160972 UniProt: Q96I34

The protein functions as a myosin phosphatase targeting subunit that directs protein phosphatase 1 to specific substrates including myosin light chains, regulating muscle contraction and intracellular movement. Mutations in PPP1R16A cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene shows moderate constraint to loss-of-function variation, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.65

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)