MT-TA

Chr MT

tRNA-Ala

Also known as: MTTA

NCBI Gene: 4553 ENSG00000210127 OMIM: 590000

This gene encodes mitochondrial tRNA for alanine, which is essential for protein synthesis within mitochondria and proper functioning of the electron transport chain. Mutations cause mitochondrial myopathy and optic neuropathy, with clinical severity often dependent on the degree of heteroplasmy. Inheritance follows a maternal pattern due to mitochondrial genome location.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · mitochondrial disease · MT · ClinGen 2024

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-TA

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TA 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-TA

Live table ↗

Variant	Disease	Status	GenBank seqs
m.5587T>C	LHON / possible DEAF modifier / MIDD / dilated cardiomyopathy / hypertension / tic disorder	Reported	39
m.5591G>A	Myopathy	Uncertain significance · reported	0
m.5592A>G	Coronary Heart Disease	Reported	36
m.5595G>A	Reported in tic disorder patient	Reported	0
m.5601C>T	Possible helper mutation in maternally inherited hypertension and in LHON	Reported	700
m.5610G>A	Myopathy	Uncertain significance · reported	0
m.5613T>C	CPEO	Reported	0
m.5618T>C	Hearing loss patient	Reported	20
m.5628T>C	CPEO / DEAF enhancer / gout / tic disorder	Reported	143
m.5631G>A	Myopathy	Uncertain significance · reported	1
m.5636T>C	PEO	Reported	0
m.5641T>C	Hearing loss patient	Reported	9
m.5650G>A	Myopathy	Likely pathogenic · confirmed	1
m.5652C>G	Dilated Cardiomyopathy	Reported	0
m.5655T>C	DEAF enhancer / Hypertension risk	Reported	457