METTL4

Chr 18

methyltransferase 4, N6-adenosine

Also known as: HsT661

NCBI Gene: 64863 ENSG00000101574 UniProt: Q8N3J2

METTL4 encodes a methyltransferase that adds methyl groups to adenine residues in both RNA and DNA, regulating RNA splicing through snRNA modification and controlling mitochondrial transcript levels and DNA copy number. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Enables RNA methyltransferase activity and site-specific DNA-methyltransferase (adenine-specific) activity. Involved in regulation of primary metabolic process and snRNA (adenine-N6)-methylation. Located in cytosol; mitochondrial matrix; and nucleus. Part of RNA N6-methyladenosine methyltransferase complex and oxidoreductase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.95

LOEUF

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Mechanism

Some data sources returned errors (1)