ALS2CR11
Description
ALS2CR11, also known as chromosome 11 open reading frame 11 (C11orf11), is a gene that encodes a protein involved in the regulation of neuronal function. Mutations in this gene are associated with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by progressive muscle weakness and atrophy. The ALS2CR11 protein interacts with other proteins involved in vesicle trafficking and axonal transport, suggesting a role in maintaining the structural and functional integrity of neurons. While the exact mechanisms underlying its involvement in ALS are still being investigated, research suggests that ALS2CR11 mutations may disrupt these essential cellular processes, leading to neuronal dysfunction and ultimately, cell death.
Associated Diseases
Did you know?
ALS2CR11 is a relatively recently discovered gene associated with ALS. Its identification highlights the complex genetic landscape of this disease and the importance of ongoing research to uncover the underlying mechanisms.
