FFH1

FFH1 is a gene located on chromosome 17q21.31, which encodes for the protein Factor for Vacuolar Protein Sorting 1 (VPS33A). This protein plays a crucial role in the endosomal sorting complex required for transport (ESCRT) pathway, which is essential for the degradation of cellular components and the recycling of cellular membranes. Mutations in the FFH1 gene have been associated with several genetic disorders, including:

1. **Ceroid Lipofuscinosis (CLN2)**: This is a lysosomal storage disorder characterized by the accumulation of lipofuscin in various tissues, leading to progressive neurodegeneration and multisystem involvement.

2. **Charcot-Marie-Tooth Disease (CMT)**: This is a group of inherited neuromuscular disorders that affect the peripheral nerves, leading to muscle weakness and atrophy.

3. **Dentatorubral-Pallidoluysian Atrophy (DRPLA)**: This is a rare, progressive neurodegenerative disorder that affects the basal ganglia and cerebellum, leading to movement disorders and cognitive decline.

The FFH1 gene is highly conserved across species, suggesting its critical role in cellular processes. Research into FFH1 and its associated disorders continues to focus on understanding the molecular mechanisms underlying these conditions and developing potential therapeutic strategies.