METTL15

Chr 11

methyltransferase 15, mitochondrial 12S rRNA N4-cytidine

Also known as: METT5D1

NCBI Gene: 196074 ENSG00000169519 UniProt: A6NJ78 OMIM: 618711

This protein is an N4-methylcytidine methyltransferase that methylates mitochondrial 12S rRNA at position C839, facilitating assembly of mitochondrial small ribosomal subunits. Mutations cause autosomal recessive intellectual developmental disorder with short stature, facial dysmorphism, and speech delay. The gene is extremely intolerant to loss-of-function variation, reflecting its essential role in mitochondrial protein synthesis.

OMIM ResearchSummary from RefSeq, UniProt

Enables rRNA (cytosine-N4-)-methyltransferase activity. Involved in mitochondrial small ribosomal subunit assembly and rRNA base methylation. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.33

LOEUF

Mechanism· predicted