PRR5L

Chr 11

proline rich 5 like

Also known as: PROTOR2

NCBI Gene: 79899 ENSG00000135362 UniProt: Q6MZQ0 OMIM: 611728

The protein associates with the mTORC2 complex and regulates its activity in a substrate-specific manner, controlling cellular processes including cytoskeletal organization, cell survival, and cell migration. Mutations in this gene cause microcephaly, developmental delay, and seizures with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.637), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Enables ubiquitin protein ligase binding activity. Involved in several processes, including TORC2 signaling; positive regulation of intracellular protein transport; and regulation of fibroblast migration. Part of TORC2 complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted