XKR7

Chr 20

XK related 7

Also known as: C20orf159, dJ310O13.4

NCBI Gene: 343702 ENSG00000260903 UniProt: Q5GH72

The protein is predicted to be involved in apoptotic processes during development, including phosphatidylserine exposure on apoptotic cell surfaces and engulfment of apoptotic cells, and is located in cellular membranes including the plasma membrane. This gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.38), but no definitive human disease associations have been established to date. Clinical significance of variants in this gene remains unclear pending further research.

ResearchSummary from RefSeq

Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

0.38

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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