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MT-TT mitochondrially encoded tRNA threonine [ Homo sapiens (human) ]

Gene ID: 4576, updated on 12-Sep-2024

Summary

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Official Symbol
MT-TTprovided by HGNC
Official Full Name
mitochondrially encoded tRNA threonineprovided by HGNC
Primary source
HGNC:HGNC:7499
See related
MIM:590090; AllianceGenome:HGNC:7499
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTT; TRNT
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Genomic context

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See MT-TT 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 (15888..15953)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (15888..15953)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Glu Neighboring gene cytochrome b Neighboring gene tRNA-Pro

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. Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA(Thr) Gene. Li K, et al. J Diabetes Res, 2020. PMID 32083134, Free PMC Article
  2. A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis. Jia Z, et al. Nucleic Acids Res, 2019 Feb 28. PMID 30541130, Free PMC Article
  3. Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNA(Thr) in eight Chinese pedigrees. Zhang J, et al. Mitochondrion, 2018 Sep. PMID 29225014
  4. [The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families]. Zhang Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011 Oct. PMID 21983721
  5. A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes. Momiyama Y, et al. Biochem Biophys Res Commun, 2003 Dec 19. PMID 14680844

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA(Thr) Gene.
    Title: Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA(Thr) Gene.
  2. A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.
    Title: A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.
  3. the tRNAThr 15927G > A mutation, identified in a large cohort of LHON subjects, decreased the activities of mitochondrial complexes I and III, markedly diminished mitochondrial ATP levels, and increased the production of reactive oxygen species in the mutant cells.
    Title: Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNA(Thr) in eight Chinese pedigrees.
  4. the mitochondrial tRNA(Thr) A15951G mutation might be involved in the pathogenesis of Leber's hereditary optic neuropathy in the two families.
    Title: [The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk.
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

Associated conditions

Description Tests
Parkinson disease, mitochondrial
MedGen: C1838867 OMIM: 556500 GeneReviews: Parkinson Disease Overview
not available
Lethal infantile mitochondrial myopathy
MedGen: C1838876 OMIM: 551000 GeneReviews: Primary Mitochondrial Disorders Overview
not available

Variation

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See Variation Viewer (GRCh37.p13)

General gene information

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Markers

  • NAR: 1797

Gene LinkOut

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Other Literature Sources
Molecular Biology Databases
Research Materials