MT-TW

Chr MT

tRNA-Trp

Also known as: MTTW

NCBI Gene: 4578ENSG00000210117

This gene encodes mitochondrial tRNA for tryptophan, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause encephalomyopathy and Leigh syndrome through disruption of mitochondrial energy production. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy in affected tissues.

GeneReviewsResearchSummary from Curated mito context
Clinical Summary— MT-TW
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Gene-Disease Validity (ClinGen)
mitochondrial disease · MTDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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GeneReview available — MT-TW
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT-TW · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Strasser L et al.·Am J Med Genet A
2023
Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW.
Wang S et al.·Front Neurol
2021Open AccessCase report
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.
Cardaioli E et al.·Biochem Biophys Res Commun
2018
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
Duff RM et al.·Mitochondrion
2015
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.
Granadillo JL et al.·Mol Genet Metab Rep
2014
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients