MT-TF

Chr MT

tRNA-Phe

NCBI Gene: 4558 ENSG00000210049 OMIM: 590070

This gene encodes mitochondrial tRNA for phenylalanine, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause mitochondrial myopathy and tubulointerstitial nephropathy. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy.

GeneReviews OMIM ResearchSummary from Curated mito context

Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

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GeneReview available — MT-TF

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TF is a mitochondrial tRNA gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, the protein lollipop, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

MITOMAP Disease Variants — MT-TF

Live table ↗

Variant	Disease	Status	GenBank seqs
m.578T>C	Unspecified patient from clinical lab / MS	Uncertain significance · reported	0
m.582T>C	Mitochondrial myopathy	Reported	0
m.583G>A	MELAS / MM & EXIT	Uncertain significance · confirmed	0
m.586G>A	Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL	Uncertain significance · reported	0
m.588T>C	MELAS	Reported	0
m.590A>G	EXIT+ataxia+RP	Uncertain significance · reported	0
m.591C>T	Gitelman-like syndrome	Likely pathogenic · confirmed	0
m.593T>C	Nonsyndromic hearing loss / LHON / PCOS patient	Reported	338
m.602C>T	Axial myopathy with encephalopathy	Reported	1
m.606A>G	Myoglobinuria	Unclear	26
m.608A>G	Tubulo-interstitial nephritis	Uncertain significance · reported	0
m.611G>A	MERRF	Uncertain significance · reported	0
m.616T>G	Maternally inherited epilepsy	Uncertain significance · reported	1
m.616T>C	Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) / Gitelman-like syndrome	Likely pathogenic · confirmed	1
m.617G>A	Carotid artery stenosis	Reported	0
m.618T>G	Ptosis CPEO MM & EXIT	Reported	0
m.618T>C	MM / Chronic Kidney Disease (CKD)	Uncertain significance · reported	0
m.622G>A	EXIT & Deafness	Uncertain significance · reported	0
m.625G>A	SNHL & Epilepsy	Reported	0
m.628C>T	DEAF	Reported	3
m.636A>G	DEAF	Reported	21
m.641A>T	Epileptic Encephalopathy	Reported	0
m.642T>C	Ataxia, PEO, deafness	Reported	0
m.643A>G	Gitelman-like syndrome	Reported	0