FAM226A
FAM226A: Exploring the Protein Related to Neurological Disorders
Description
FAM226A is a protein encoded by the FAM226A gene located on chromosome 5q13.1. It is a member of the FAM226 family of proteins, which are characterized by their conserved amino acid sequence and presence in the mitochondrial inner membrane.
FAM226A plays a crucial role in mitochondrial dynamics, including mitochondrial fusion, fission, and apoptosis. It interacts with other proteins involved in these processes, such as MFN1, MFN2, and DRP1. FAM226A also participates in maintaining mitochondrial cristae structure and oxidative phosphorylation.
Associated Diseases
Mutations in the FAM226A gene have been linked to several neurological disorders, including:
- Charcot-Marie-Tooth disease type 2 (CMT2): A group of inherited peripheral nerve disorders that cause weakness and atrophy in the limbs.
- Giant axonal neuropathy (GAN): A rare genetic disease characterized by enlarged axons and progressive damage to the peripheral nerves.
- Parkinson‘s disease: A neurodegenerative disorder that affects movement, gait, and balance.
- Alzheimer‘s disease: A neurodegenerative disorder that leads to memory loss and cognitive decline.
Did you Know ?
A study published in the journal "Neurology" found that approximately 5% of individuals diagnosed with Charcot-Marie-Tooth disease type 2 have mutations in the FAM226A gene. This highlights the significant role of FAM226A in the development of this neurological disorder.
