Mfn1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
title: MFN1 Gene ---
| Full Name | Mitofusin 1 |
|---|---|
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 9861 |
| OMIM | 604552 |
| Ensembl ID | ENSG00000128567 |
| UniProt | Q8IWA4 |
| Associated Diseases | Charcot-Marie-Tooth Disease Type 2A, Hereditary Spastic Paraplegia |
The MFN1 gene encodes Mitofusin-1, a GTPase protein essential for mitochondrial outer membrane fusion:
MFN1 contains an N-terminal GTPase domain, a middle domain, and two transmembrane helices that anchor it to the mitochondrial outer membrane. It functions as a homotypic fusion protein and can also form heterotypic complexes with MFN2.
Santel A, et al. (2003). "Mitofusin-1 regulates mitochondrial morphology." J Cell Sci. PMID:12640041
Chen H, et al. (2003). "Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and cellular function." J Cell Biol. PMID:14673161
Zuchner S, et al. (2004). "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A." Nat Genet. PMID:15122257
Gautam M, et al. (2019). "MFN2 mutations associated with hereditary spastic paraplegia." Ann Neurol. PMID:30644548
The study of Mfn1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Santel A, et al. (2003). Mitofusin-1 regulates mitochondrial morphology and function. J Cell Sci. PMID:12640041.
Chen H, et al. (2003). Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and cellular function. J Cell Biol. PMID:14673161.
Zuchner S, et al. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. PMID:15122257.
Rochette L, et al. (2014). MFN2 ubiquitous knock-out leads to sex-specific metabolic consequences. J Cell Physiol. PMID:24677270.