Summary:

NameCombined mitochondrial respiratory chain complex deficiency (C:m5C)
DescriptionNSUN3-dependent modification of mt-tRNAMet is a necessary intermediate step towards the formation of 5-formylcytosine (f5C) in mtRNA
Related RNA reactionC:m5C
Found in RNAmt-tRNA
Modified TranscriptNone
Mapping TechnologyWhole-exome sequencing, miCLIP-seq,Bisulphite-seq
Quantification techniquesNone

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
NSUN3 tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI

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