Features include always present findings: Brain shrinkage (cerebral atrophy), Status epilepticus, Hepatic failure, and Seizure and others.

MRM2 encodes mitochondrial rRNA methyltransferase 2 (246 aa). S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. Highest expression in Cells EBV-transformed lymphocytes (49.9 TPM) and Cells Cultured fibroblasts (31.2 TPM).

Mitochondrial DNA depletion syndrome 17 is associated with mutations in the MRM2 gene on chromosome 7.

MRM2 is classified as a druggable target with score 26.1.

Genetic testing for MRM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial DNA depletion syndrome 17 has been reported in the published literature.

Phenotype severity distribution: 16 always present features.

No clinical trials have been registered for mitochondrial DNA depletion syndrome 17.

114 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 17. Kisho has analyzed 52 by research type. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (19%).