AlphaFold predicted structure
TSFM · P43897
Mean pLDDT
87.9/ 100
Confident
325 residues
Confidence breakdown
- Very high(≥ 90)79%
- Confident(70–90)6%
- Low(50–70)4%
- Very low(< 50)12%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TSFM
Chr 12q14.1Ts translation elongation factor, mitochondrial
- Aliases:
- EF-Tsmt, EF-TS
- MANE:
- ENST00000652027.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalRhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
0.79fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
0.74steroid-resistant nephrotic syndrome
0.45hereditary disease
0.41inborn mitochondrial metabolism disorder
0.37mitochondrial disease
0.37neurodegenerative disease
0.37dilated cardiomyopathy
0.33Abnormality of the skeletal system
0.24Leigh syndrome
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Elongation factor Ts, mitochondrial
Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Participates in mitochondrial translation (PubMed:27677415)