TEFM (Transcription Elongation Factor, Mitochondrial)
Mitochondrial transcription elongation factor essential for mtDNA expression and oxidative phosphorylation
Gene Information Card
| Symbol | TEFM |
|---|---|
| Full Name | Transcription Elongation Factor, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 79750 ncbi.nlm.nih.gov/gene/79750 |
| Ensembl ID | ENSG00000163888 |
| UniProt ID | Q96QE3 |
| OMIM ID | 615422 |
| HGNC ID | 28877 |
| Aliases | COXPD38, MTERF4, FLJ10305 |
Description
TEFM (Transcription Elongation Factor, Mitochondrial) encodes a mitochondrial protein that is essential for efficient transcription elongation of mitochondrial DNA (mtDNA). It binds to the mitochondrial RNA polymerase (POLRMT) and promotes processive transcription, thereby enabling the synthesis of long polycistronic transcripts required for oxidative phosphorylation. Loss-of-function mutations in TEFM cause mitochondrial complex deficiency and are associated with combined oxidative phosphorylation deficiency type 38 (COXPD38).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 38 (COXPD38) | Biallelic loss-of-function mutations impair mtDNA transcription elongation, leading to reduced synthesis of mitochondrial-encoded subunits of respiratory chain complexes. | OMIM #615422; ClinVar; PMID: 31302675 |
| Mitochondrial encephalopathy | Defective mtDNA expression due to TEFM deficiency results in energy failure in high-demand tissues such as brain and muscle. | ClinVar; PMID: 31302675 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Brain | 5.2 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | RNA-seq from GTEx |
| HEK293 | 9.2 | RNA-seq from GTEx |
| K562 | 8.0 | RNA-seq from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / start loss | Rare | Loss of protein expression; associated with COXPD38 |
| c.262C>T (p.Arg88*) | Nonsense | Rare | Premature truncation; loss of function |
| c.464T>C (p.Leu155Pro) | Missense | Rare | Impaired protein stability and function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., start loss, nonsense, missense) cause combined oxidative phosphorylation deficiency 38 (COXPD38) by disrupting mtDNA transcription elongation.
Gain of Function (GOF)
No gain-of-function mutations reported in TEFM.
Dominant Negative (DN)
No dominant-negative mutations reported in TEFM.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial transcription (GO:0006390) |
| • zinc ion binding (GO:0008270) | • mitochondrial transcription elongation (GO:0034243) |
| • mitochondrial nucleoid (GO:0042645) |
Pathways
• Mitochondrial transcription initiation and elongation (Reactome: R-HSA-166200)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
TEFM is a 360-amino-acid mitochondrial protein containing a zinc finger domain. It forms a complex with POLRMT and TFAM to facilitate processive transcription elongation of mtDNA. The protein is localized to the mitochondrial matrix and is critical for the expression of mitochondrial-encoded genes. Structural studies show that TEFM binds to the POLRMT catalytic domain, reducing pausing and termination, thereby ensuring full-length transcript production.
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