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MT-TH mitochondrially encoded tRNA histidine [ Homo sapiens (human) ]

Gene ID: 4564, updated on 12-Sep-2024

Summary

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Official Symbol
MT-THprovided by HGNC
Official Full Name
mitochondrially encoded tRNA histidineprovided by HGNC
Primary source
HGNC:HGNC:7487
See related
MIM:590040; AllianceGenome:HGNC:7487
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTH; TRNH
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Genomic context

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See MT-TH in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (12138..12206)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (12138..12206)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Arg Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene NADH dehydrogenase subunit 4 Neighboring gene tRNA-Ser Neighboring gene tRNA-Leu

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Gong S, et al. Nucleic Acids Res, 2014 Jul. PMID 24920829, Free PMC Article
  2. Whole mitochondrial genome analysis in Chinese patients with keratoconus. Xu L, et al. Mol Vis, 2021. PMID 34012229, Free PMC Article
  3. Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men. Siwar BG, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24931671
  4. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Whole mitochondrial genome analysis in Chinese patients with keratoconus.
    Title: Whole mitochondrial genome analysis in Chinese patients with keratoconus.
  2. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men.
    Title: Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.
  3. The findings demonstrate the pathogenic mechanism leading to an impaired oxidative phosphorylation in cybrid cell lines carrying the deafness-associated tRNAHis 12201T>C mutation.
    Title: A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

General gene information

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  • NAR: 0897

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