METTL5

Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:32217665, PubMed:33357433, PubMed:33428944, PubMed:35033535). N6-methylation of adenine(1832) in 18S rRNA resides in the decoding center of 18S rRNA and is required for translation and embryonic stem cells (ESCs) pluripotency and differentiation (PubMed:33357433).

Intellectual developmental disorder, autosomal recessive 72

MRT72

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the methyltransferase superfamily. PrmA family.

Expressed from very early development (8 post-conceptual weeks) and expression persists through adulthood in multiple substructures of the brain, including the cerebellar cortex, hippocampus, and striatum.

• Nucleus
• Presynapse
• Postsynapse

DC3, HSPC133, METTL5, rRNA N(6)-adenosine-methyltransferase METTL5, Methyltransferase-like protein 5

• entrezGene:29081
• swissprot:Q9NRN9

Proteins

Immunology & Infectious Disease

23719Da