METTL16

Chr 17

methyltransferase 16, RNA N6-adenosine

Also known as: METT10D

NCBI Gene: 79066 ENSG00000127804 UniProt: Q86W50

METTL16 encodes an RNA N6-methyltransferase that methylates specific adenosine residues in mRNAs and U6 small nuclear RNAs, playing a critical role in S-adenosyl-L-methionine homeostasis by regulating MAT2A transcript expression. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures, typically presenting in infancy or early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.405), indicating that complete loss of protein function is poorly tolerated.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity and RNA methyltransferase activity. Involved in RNA processing and regulation of mRNA metabolic process. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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

0.41

LOEUF

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Mechanism

Some data sources returned errors (1)

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