ETNK1

Chr 12

ethanolamine kinase 1

Also known as: EKI, EKI 1, EKI1, Nbla10396

NCBI Gene: 55500 ENSG00000139163 UniProt: Q9HBU6

The protein is an ethanolamine kinase that catalyzes the first committed step of phosphatidylethanolamine synthesis, a critical phospholipid component of cell membranes. Mutations cause autosomal recessive intellectual disability with seizures and developmental delay, typically presenting in early childhood. The gene is highly constrained against loss-of-function mutations (pLI 0.93, LOEUF 0.36), indicating intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

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

0.36

LOEUF

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Mechanism

Some data sources returned errors (1)

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