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 Summary— MT-TA

🧬

Gene-Disease Validity (ClinGen)

mitochondrial disease · MTDefinitive

Definitive — sufficient evidence for diagnostic panels

📋

ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 10 VUS of 23 total submissions

💊

Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

📖

GeneReview available — MT-TA

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

23 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS10

Likely Benign4

Benign8

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	0
Likely Pathogenic	—	—	—	—	1
VUS	—	—	—	—	10
Likely Benign	—	—	—	—	4
Benign	—	—	—	—	8
Total	—				23

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

3 pathogenic / likely-pathogenic (of 4) ClinVar copy-number / structural variants overlap MT-TA — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →