MT-TW mitochondrially encoded tRNA tryptophan [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-TWprovided by HGNC
Official Full Name: mitochondrially encoded tRNA tryptophanprovided by HGNC
Primary source: HGNC:HGNC:7501
See related: MIM:590095; AllianceGenome:HGNC:7501
Gene type: tRNA
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTTW; TRNW
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (5512..5579)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (5512..5579)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Title: The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA(Trp) and remarkable mitochondrial dysfunction.
Title: MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA(Trp) and remarkable mitochondrial dysfunction.
This is the 17 degrees mutation in MT-TW gene and expands the known causes of late-onset mitochondrial diseases.
Title: Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.
A homoplasmic mutation m.5512A > G in the mitochondrial tRNATrp(MT-TW) gene was identified and further analysis revealed the potential pathogenicity of this mutation to cause maternally inherited essential hypertension.
Title: Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension.
The results show that the m.5559A>G mutation at homoplasmic levels causes Leigh syndrome in association with severe multi-organ disease (Leigh syndrome-plus) as a consequence of dysfunctional mitochondrial RNA metabolism.
Title: A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
The first mutational screening of mitochondrial mutations in Tunisian patients with Leigh syndrome which described two novel mutations associated with this disorder.
Title: Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

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Phenotypes

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Associated conditions

Description	Tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs