VKORC1L1

Chr 7

vitamin K epoxide reductase complex subunit 1L1

NCBI Gene: 154807 ENSG00000196715 UniProt: Q8N0U8

The protein reduces vitamin K 2,3-epoxide to active vitamin K and contributes to vitamin K-dependent gamma-carboxylation of glutamate residues in target proteins. Mutations cause autosomal recessive vitamin K-dependent coagulation factor deficiency, which presents with bleeding disorders due to impaired blood clotting. The gene is highly constrained against loss-of-function variants (pLI = 0.84), indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]

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

0.49

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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