MYO16

Chr 13

myosin XVI

Also known as: MYAP3, MYR8, Myo16b, NYAP3, PPP1R107

NCBI Gene: 23026 ENSG00000041515 UniProt: Q9Y6X6

This gene encodes an unconventional myosin that functions as an actin-based motor protein with ATPase activity and may target protein phosphatase 1 during brain development while regulating neuronal morphogenesis. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.27), and variants have been associated with susceptibility to schizophrenia. Inheritance pattern and specific pediatric phenotypes associated with pathogenic variants in this gene are not well established in the current literature.

ResearchSummary from RefSeq, UniProt

This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]

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)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

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Mechanism

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