Skip to content
Use your HSA or FSA funds

Gene

GTPBP3

GTP binding protein 3, mitochondrial

Summary

Cytogenetic location
19p13.11
Coordinates
Chromosome 19: 17,337,553–17,342,731 (GRCh38)
Exons
9 exons across 5.2 kb
Protein
492 amino acids
Also known as
MSS1, THDF1, GTPBG3, MTGP1, FLJ14700
MANE Select transcript
ENST00000324894.13NM_032620.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can end a diagnostic search and guide surveillance and supportive care.

Broader groupings

  • Leigh Syndrome

    • One of 69 genes linked to it

      A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

      • ClinGen rates the link moderate

How GTPBP3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 19, with a bracket where GTPBP3 sits. GTPBP3 and 34 genes near it on chromosome 19, from 16,840,142 to 17,840,141.Chromosome 1919p13.11p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4317 Mb17.2 Mb17.4 Mb17.6 Mb17.8 MbSIN3B: 16,829,387–16,880,355, forward strandSIN3BF2RL3: 16,888,844–16,892,606, forward strandF2RL3CPAMD8: 16,892,951–17,026,982, reverse strandCPAMD8HAUS8: 17,049,729–17,075,625, reverse strandHAUS8MYO9B: 17,075,728–17,214,537, forward strandMYO9BUSE1: 17,215,337–17,220,245, forward strandUSE1OCEL1: 17,226,198–17,229,219, forward strandOCEL1NR2F6: 17,229,207–17,245,953, reverse strandNR2F6: 17,235,940–17,255,448, reverse strandUSHBP1: 17,249,171–17,282,786, reverse strandBABAM1: 17,267,343–17,281,249, forward strand: 17,267,418–17,282,966, forward strandANKLE1: 17,281,645–17,287,649, forward strandABHD8: 17,292,131–17,310,236, reverse strandABHD8MRPL34: 17,292,543–17,306,847, forward strandDDA1: 17,309,518–17,323,315, forward strandDDA1ANO8: 17,323,223–17,334,864, reverse strandANO8GTPBP3: 17,337,553–17,342,731, forward strandGTPBP3PLVAP: 17,351,450–17,377,356, reverse strandPLVAPCCDC194: 17,387,196–17,394,201, reverse strandCCDC194BST2: 17,402,933–17,407,393, reverse strandBST2MVB12A: 17,405,722–17,436,364, forward strandMVB12ATMEM221: 17,435,509–17,448,679, reverse strandTMEM221: 17,436,611–17,460,804, reverse strandNXNL1: 17,455,425–17,460,926, reverse strandNXNL1SLC27A1: 17,467,666–17,506,190, forward strandSLC27A1PGLS: 17,511,607–17,521,288, forward strandPGLSNIBAN3: 17,523,301–17,553,839, forward strandNIBAN3COLGALT1: 17,555,590–17,583,162, forward strandCOLGALT1UNC13A: 17,601,327–17,688,382, reverse strandUNC13AMAP1S: 17,719,242–17,734,515, forward strandMAP1SFCHO1: 17,747,701–17,788,572, forward strandFCHO1B3GNT3: 17,794,697–17,814,175, forward strandB3GNT3INSL3: 17,816,512–17,821,574, reverse strandINSL3JAK3: 17,824,780–17,848,071, reverse strandJAK3Diagram of GTPBP3: 9 exons on the forward strand of chromosome 19Exon 2: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 17,337,553–17,337,664, 112 basesExon 2: 17,338,008–17,338,255, 248 basesExon 3: 17,338,365–17,338,451, 87 basesExon 4: 17,338,539–17,338,741, 203 basesExon 5: 17,338,954–17,339,026, 73 basesExon 6: 17,339,123–17,339,266, 144 basesExon 7: 17,339,434–17,339,599, 166 basesExon 8: 17,341,044–17,341,322, 279 basesExon 9: 17,341,478–17,342,731, 1,254 bases1234567895′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.6 kb of the gene's 5.2 kb; 1,479 of those bases code for the protein.

How a genome test reads GTPBP3

14

positions in GTPBP3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 5.2 kb of GTPBP3, introns included, not only the 2.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GTPBP3 gene: GTP binding protein 3, mitochondrial. Retrieved 16 October 2026, from https://dantelabs.com/genes/gtpbp3

Vancouver

Dante Labs. GTPBP3 gene: GTP binding protein 3, mitochondrial [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gtpbp3

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test