GTPBP3 wt Allele

Preferred Label : GTPBP3 wt Allele;

NCIt synonyms : FLJ14700; MSS1, S. cerevisiae, Homolog of Gene; GTP Binding Protein 3, Mitochondrial wt Allele; THDF1; COXPD23; MTGP1; MSS1; GTPBG3;

NCIt definition : Human GTPBP3 wild-type allele is located in the vicinity of 19p13.11 and is approximately 8 kb in length. This allele, which encodes tRNA modification GTPase GTPBP3, mitochondrial protein, is involved in GTP-dependent modification of transfer RNA in the mitochondrion. Mutations in the gene are associated with combined oxidative phosphorylation deficiency 23.;

NCI Metathesaurus CUI : CL1799028;

GenBank Accession Number : AF360742;

Details

Origin ID

C190295;

UMLS CUI

C5780784;

Automatic exact mappings (from CISMeF team)
- Combined oxidative phosphorylation defect type 23 [ORDO Disease]
- Combined oxidative phosphorylation deficiency 23 [OMIM Phenotype]
- Proteasome 26s subunit, atpase, 2 [OMIM gene]
- combined oxidative phosphorylation deficiency 23 [DO Concept]
OMIM relation
- Gtp-binding protein 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- GTP binding protein 3, mitochondrial [ORDO Gene]
- Gtp-binding protein 3 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.11 [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Methylation [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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