MFN1
From WikiMD's Wellness Encyclopedia
Mitofusin 1 (MFN1) is a protein-coding gene located on chromosome 3q27. It plays a crucial role in mitochondrial fusion and maintenance of mitochondrial morphology. Mutations in the MFN1 gene have been associated with various mitochondrial disorders.
Function[edit | edit source]
MFN1 is a key regulator of mitochondrial fusion, a process essential for maintaining mitochondrial function and integrity. It interacts with other proteins involved in mitochondrial dynamics to facilitate fusion of the mitochondrial outer membrane.
Clinical Significance[edit | edit source]
Mutations in the MFN1 gene have been linked to Charcot-Marie-Tooth disease type 2A, a peripheral neuropathy characterized by muscle weakness and atrophy. Additionally, alterations in MFN1 expression have been implicated in neurodegenerative disorders and metabolic diseases.
Interactions[edit | edit source]
MFN1 interacts with several proteins involved in mitochondrial dynamics, such as MFN2 and OPA1. These interactions are crucial for coordinating mitochondrial fusion and fission processes.
References[edit | edit source]
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