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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TEFM
transcription elongation factor, mitochondrial
Chromosome 17 · 17q11.2
NCBI Gene: 79736Ensembl: ENSG00000172171.12HGNC: HGNC:26223UniProt: Q96QE5
45PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial matrixribonucleoprotein complexmitochondrial DNA replicationtranscription elongation factor activityneurodegenerative diseaseosteoarthritisosteoarthritis, kneeperipheral arterial disease
✦AI Summary

TEFM is a mitochondrial transcription elongation factor that enhances the processivity of mitochondrial RNA polymerase (mtRNAP), enabling synthesis of long polycistronic transcripts from the mitochondrial genome 1. Mechanistically, TEFM functions as a sliding clamp that binds to transcribing mtRNAP and prevents formation of inhibitory RNA G-quadruplex structures at termination sites, thereby suppressing transcription termination and driving mtDNA replication 2. TEFM regulates transcription of genes encoding oxidative phosphorylation machinery components 3. Pathogenic TEFM variants cause childhood-onset neurological disease characterized by impaired mitochondrial respiratory chain function, mitochondrial myopathy, and neuromuscular transmission defects, with reduced levels of promoter-distal mitochondrial RNA transcripts 3. TEFM-associated congenital myasthenic syndrome represents a recently identified form of neuromuscular junction disease 4. Beyond mitochondrial disorders, TEFM dysregulation promotes malignancy in multiple cancer types; elevated TEFM expression in lung adenocarcinoma and endometrial carcinoma facilitates tumor progression through mitochondrial dysfunction-induced ROS production and inflammatory pathway activation 56. These findings identify TEFM as both a disease-associated gene and potential therapeutic target for both mitochondrial disorders and cancer.

Sources cited
1
TEFM increases polymerase processivity for synthesis of long polycistronic mtRNA transcripts
PMID: 30190598
2
TEFM acts as sliding clamp preventing RNA G-quadruplex formation to suppress termination
PMID: 29033127
3
TEFM variants cause mitochondrial myopathy with neuromuscular transmission defects and reduced mitochondrial RNA transcripts
PMID: 36823193
4
TEFM-CMS is a recently identified form of congenital myasthenic syndrome
PMID: 38191138
5
TEFM overexpression promotes lung adenocarcinoma progression through mitochondrial dysfunction and ROS production
PMID: 39075464
6
TEFM upregulation activates ROS-NFκB pathway to promote endometrial carcinoma growth and metastasis
PMID: 39731053
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.37Weak
osteoarthritisOpen Targets
0.18Weak
osteoarthritis, kneeOpen Targets
0.18Weak
peripheral arterial diseaseOpen Targets
0.18Weak
ArthropathyOpen Targets
0.15Weak
breast carcinomaOpen Targets
0.14Weak
breast cancerOpen Targets
0.13Weak
ovarian carcinomaOpen Targets
0.11Weak
osteoarthritis, hipOpen Targets
0.11Weak
hypothyroidismOpen Targets
0.10Weak
cancerOpen Targets
0.10Weak
Uterine leiomyomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
total knee arthroplastyOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
medical procedureOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
estrogen-receptor positive breast cancerOpen Targets
0.05Suggestive
Combined oxidative phosphorylation deficiency 58UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTERF1Protein interaction85%CRLF3Protein interaction73%ATXN8Protein interaction70%TFB2MProtein interaction66%POLRMTProtein interaction62%TWNKProtein interaction50%
Tissue Expression6 tissues
Heart
100%
Liver
89%
Ovary
79%
Bone Marrow
57%
Brain
56%
Lung
53%
Gene Interaction Network
Click a node to explore
TEFMMTERF1CRLF3ATXN8TFB2MPOLRMTTWNK
PROTEIN STRUCTURE
Preparing viewer…
PDB5OL9 · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.36–0.81]
RankingsWhere TEFM stands among ~20K protein-coding genes
  • #9,530of 20,598
    Most Researched45
  • #6,772of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedTEFM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
PMID: 37721175
Brain · 2024
1.00
2
Mitochondria transcription and cancer.
PMID: 38589371
Cell Death Discov · 2024
0.90
3
TEFM facilitates uterine corpus endometrial carcinoma progression by activating ROS-NFκB pathway.
PMID: 39731053
J Transl Med · 2024
0.80
4
[Congenital Myasthenic Syndromes].
PMID: 38191138
Brain Nerve · 2024
0.70
5
Identification of TEFM as a potential therapeutic target for LUAD treatment.
PMID: 39075464
J Transl Med · 2024
0.60