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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
    6
    2. ClingenBaseline 21 Oct 2026
      Figure 2

      PatientCell CL:0000057 (fibroblast)

      GeneFunction GO:0070131 (positive regulation of mitochondrial translation)

      GeneAlteration n/a

      FunctionalEvidence (Figure 2D) Labelling patient fibroblast proteins with EasyTag EXPRESS35S Protein Labeling Mix showed decreased assembly of complex I (NDUFB8) and IV (COXI) which corroborates the reduced mean enzyme activity and mitochondrial translation in Table 1.

      FAVariants NM_017819.3(TRMT10C):c.814A>G (p.Thr272Ala)

      ClinVar: 224317

      and

      NM_017819.3(TRMT10C):c.542G>T (p.Arg181Leu)

      ClinVar: 224316

      Experimental Function FunctionalAlteration inferred_gene_hgnc:26022 inferred_gene_source:RefSeq UNC Biocuration Core
    5. ClingenBaseline 21 Oct 2026
      Figure 2

      PatientCell CL:0000057 (fibroblast)

      GeneFunction GO:0070131 (positive regulation of mitochondrial translation)

      GeneAlteration n/a

      FunctionalEvidence (Figure 2D) Labelling patient fibroblast proteins with EasyTag EXPRESS35S Protein Labeling Mix showed decreased assembly of complex I (NDUFB8) and IV (COXI) which corroborates the reduced mean enzyme activity and mitochondrial translation in Table 1.

      FAVariants NM_017819.3(TRMT10C):c.814A>G (p.Thr272Ala)

      ClinVar: 224317

      and

      NM_017819.3(TRMT10C):c.542G>T (p.Arg181Leu)

      ClinVar: 224316

      Experimental Function FunctionalAlteration inferred_gene_hgnc:26022 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4863561/