Article

A missense variant impairing TRMT1 function in tRNA modification is linked to intellectual disability

2019-10-24

Abstract excerpt

The human TRMT1 gene encodes a tRNA methyltransferase enzyme responsible for the formation of the dimethylguanosine (m2,2G) modification in cytoplasmic and mitochondrial tRNAs. Frameshift mutations in the TRMT1 gene have been shown to cause autosomal-recessive intellectual disability (ID) in the human population but additional TRMT1 variants remain to be characterized. Moreover, the impact of ID-associated TRMT1...

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Literature Corpus work: 19451a08-8aa6-5888-9aec-1f6992799e86
DOI: 10.1101/817247

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