| MTERF1 — Mitochondrial Transcription Termination Factor 1 | |
|---|---|
| Symbol | MTERF1 |
| Full Name | Mitochondrial Transcription Termination Factor 1 |
| Chromosome | 7q21.3 |
| NCBI Gene | 5101 |
| Ensembl | ENSG00000138442 |
| OMIM | 605350 |
| UniProt | P56183 |
| Diseases | Parkinson's Disease, Alzheimer's Disease, Mitochondrial Disorders |
| Expression | High in brain, heart, skeletal muscle (mitochondrial) |
MTERF1 (Mitochondrial Transcription Termination Factor 1), also known as MTERF, is a gene located on chromosome 7q21.3 that encodes a mitochondrial DNA-binding protein essential for mitochondrial gene expression[1]. MTERF1 plays a critical role in regulating mitochondrial transcription and has been implicated in neurodegenerative diseases due to the central role of mitochondrial dysfunction in these conditions[2].
The MTERF1 gene spans approximately 11 kb of genomic DNA on chromosome 7q21.3 and consists of 2 exons. The gene encodes a 399 amino acid protein that localizes to mitochondria. MTERF1 is part of a family of mitochondrial transcription termination factors that includes MTERF2, MTERF3, and MTERF4 in mammals[3].
MTERF1 is a mitochondrial protein that regulates transcription of mitochondrial DNA (mtDNA):
In neurons, MTERF1 is particularly important due to the high energy demands of these cells. Mitochondrial function is essential for:
Mitochondrial dysfunction is a central feature of Parkinson's Disease pathogenesis:
Mitochondrial dysfunction is also prominent in AD:
MTERF1 mutations have been associated with:
MTERF1 and mitochondrial transcription represent therapeutic targets for neurodegenerative diseases: