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6 Possible Causes for Mutation in the GTPBP3 Gene

  • Lactic Acidosis

    By whole-exome and candidate gene sequencing, we identified 11 individuals from 9 families carrying compound heterozygous or homozygous mutations in GTPBP3, encoding the mitochondrial[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 13

    […] in the TARS2 gene ({612805}) on 1q21; COXPD22 ({616045}), caused by mutation in the ATP5A1 gene ({164360}) on 18q12; COXPD23 ({616198}), caused by mutation in the GTPBP3[diseaseinfosearch.org] […] in the TARS2 gene (612805) on 1q21; COXPD22 (616045), caused by mutation in the ATP5A1 gene (164360) on 18q12; COXPD23 (616198), caused by mutation in the GTPBP3 (608536)[ncbi.nlm.nih.gov] ({608536}) gene on 19p13; COXPD24 ({616239}), caused by mutation in the NARS2 gene ({612803}) on 11q14; COXPD25 ({616430}), caused by mutation in the MARS2 gene ({609728})[diseaseinfosearch.org]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    […] in the TARS2 gene (612805) on 1q21; COXPD22 (616045), caused by mutation in the ATP5A1 gene (164360) on 18q12; COXPD23 (616198), caused by mutation in the GTPBP3 (608536)[ncbi.nlm.nih.gov] […] in the TARS2 gene ({612805}) on 1q21; COXPD22 ({616045}), caused by mutation in the ATP5A1 gene ({164360}) on 18q12; COXPD23 ({616198}), caused by mutation in the GTPBP3[diseaseinfosearch.org] gene on 19p13; COXPD24 (616239), caused by mutation in the NARS2 gene (612803) on 11q14; COXPD25 (616430), caused by mutation in the MARS2 gene (609728) on 2q33; COXPD26[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Deficiency 22

    […] in the TARS2 gene (612805) on 1q21; COXPD22 (616045), caused by mutation in the ATP5A1 gene (164360) on 18q12; COXPD23 (616198), caused by mutation in the GTPBP3 (608536)[ncbi.nlm.nih.gov] gene on 19p13; COXPD24 (616239), caused by mutation in the NARS2 gene (612803) on 11q14; COXPD25 (616430), caused by mutation in the MARS2 gene (609728) on 2q33; COXPD26[ncbi.nlm.nih.gov] COXPD19 (615595), caused by mutation in the LYRM4 gene (613311) on 6p25; COXPD20 (615917), caused by mutation in the VARS2 gene (612802) on 6p21; COXPD21 (615918), caused by mutation[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Deficiency 15

    […] in the TARS2 gene ({612805}) on 1q21; COXPD22 ({616045}), caused by mutation in the ATP5A1 gene ({164360}) on 18q12; COXPD23 ({616198}), caused by mutation in the GTPBP3[diseaseinfosearch.org] ({608536}) gene on 19p13; COXPD24 ({616239}), caused by mutation in the NARS2 gene ({612803}) on 11q14; COXPD25 ({616430}), caused by mutation in the MARS2 gene ({609728})[diseaseinfosearch.org] 615595}), caused by mutation in the LYRM4 gene ({613311}) on 6p25; COXPD20 ({615917}), caused by mutation in the VARS2 gene ({612802}) on 6p21; COXPD21 ({615918}), caused by mutation[diseaseinfosearch.org]

  • Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

    The penetrance is much higher in the presence of nuclear mutations involved in transfer RNA base modification ( MTO1 , TRMU-MTO2 , and GTPBP3 genes) (Guan et al., 2006 , Li[link.springer.com] Thus enzymes involved in these processing are highly possible modifier genes.[link.springer.com]

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