GTPBP3 GTP binding protein 3, mitochondrial

Gene ID: 84705, updated on 28-Oct-2024
Gene type: protein coding
Also known as: MSS1; MTGP1; THDF1; GTPBG3; COXPD23

Summary

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Combined oxidative phosphorylation defect type 23 MedGen: C5567743OMIM: 616198GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.11

Sequence:: Chromosome: 19; NC_000019.10 (17334982..17342731)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GTPBP3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GTPBP3 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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