TEFM

Chr 17q11.2

transcription elongation factor, mitochondrial

Aliases:: FLJ22729
MANE:: ENST00000581216.6

OMIM: 616422 ↗NCBI: 79736 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TEFM · Q96QE5

v62025-08-01

Predicted Aligned Error matrix for TEFM — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.2/ 100

Confident

360 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)15%
Low(50–70)4%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.37
osteoarthritis
0.22
osteoarthritis, knee
0.20
arthropathy
0.18
peripheral arterial disease
0.18
breast carcinoma
0.15
breast cancer
0.14
hypothyroidism
0.13
ovarian carcinoma
0.13
hepatocellular carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription elongation factor, mitochondrial

Transcription elongation factor which increases mitochondrial RNA polymerase processivity (PubMed:21278163, PubMed:36823193). Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery (PubMed:21278163, PubMed:36823193)