MFN1

Ideogram human chromosome 3

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

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

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

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.