TRDMT1

Chr 10

tRNA aspartic acid methyltransferase 1

Also known as: DMNT2, DNMT2, MHSAIIP, PUMET, RNMT1

NCBI Gene: 1787 ENSG00000107614 UniProt: O14717 OMIM: 602478

This protein specifically methylates cytosine-38 in the anticodon loop of aspartic acid transfer RNA (tRNA-Asp), with higher activity on tRNA modified with queuosine. Mutations cause autosomal recessive intellectual developmental disorder with cardiac arrhythmias, which typically presents in early childhood with developmental delays and cardiac conduction abnormalities. The gene shows very high constraint against loss-of-function variants, indicating that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.19

LOEUF

Mechanism· predicted