Alsin (ALS2) Antibody

Background

ALS2, also known as Alsin, refers to a gene that encodes a protein called Alsin. Mutations in the ALS2 gene are associated with a rare autosomal recessive form of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, a progressive neurodegenerative disorder characterized by the degeneration of motor neurons in the brain and spinal cord. The ALS2 gene provides instructions for producing the Alsin protein, which is involved in various cellular functions, including the regulation of endosome trafficking, maintenance of the cytoskeleton, and protection against oxidative stress. Alsin is particularly important for the health and function of motor neurons, the nerve cells that control voluntary muscle movement. Mutations in the ALS2 gene can lead to dysfunctional or truncated forms of the Alsin protein, which can disrupt normal cellular processes and contribute to the degeneration of motor neurons seen in ALS. However, it's worth noting that ALS2 mutations are relatively rare and account for only a small percentage of ALS cases.