NMT2

Chr 10

N-myristoyltransferase 2

NCBI Gene: 9397 ENSG00000152465 UniProt: O60551

This gene encodes N-myristoyltransferase 2, which catalyzes the addition of myristoyl groups to the N-terminal glycine residues of signaling proteins, a lipid modification essential for proper protein localization and membrane association. Mutations cause autosomal recessive developmental delay, seizures, and hypotonia with early childhood onset. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

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

0.45

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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