PPP1R7

Chr 2

protein phosphatase 1 regulatory subunit 7

Also known as: SDS22

NCBI Gene: 5510 ENSG00000115685 UniProt: Q15435 OMIM: 602877

This gene encodes a regulatory subunit of protein phosphatase 1 that is required for completion of the mitotic cycle and targets the phosphatase to mitotic kinetochores. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.24), but no definitive disease associations have been established in the provided data. Additional clinical and functional studies would be needed to determine if mutations in this gene cause human disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

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Mechanism