METTL18

Chr 1

methyltransferase 18, RPL3 N3(tau)-histidine

Also known as: AsTP2, C1orf156, HPM1

NCBI Gene: 92342 ENSG00000171806 UniProt: O95568

The METTL18 protein is a histidine methyltransferase that monomethylates ribosomal protein RPL3 to regulate translation elongation, particularly slowing ribosome traversal on tyrosine codons to allow proper protein folding. Mutations cause autosomal recessive intellectual disability. The gene shows low constraint to loss-of-function mutations based on population genetics data.

ResearchSummary from RefSeq, UniProt

Enables heat shock protein binding activity and protein-L-histidine N-tele-methyltransferase activity. Involved in peptidyl-lysine monomethylation; regulation of gene expression; and regulation of ribosome biogenesis. Located in cytosol and nucleolus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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