KAT8

KAT8 is a protein that belongs to the kinesin family, which are motor proteins responsible for intracellular transport. KAT8 is specifically involved in the transport of vesicles along microtubules, a process crucial for various cellular functions such as protein synthesis, secretion, and endocytosis. The protein is composed of two major domains: a motor domain that binds to microtubules and a cargo-binding domain that interacts with vesicles. KAT8 is essential for the proper functioning of the endoplasmic reticulum (ER) and the Golgi apparatus, as it facilitates the transport of vesicles between these organelles. Mutations in the KAT8 gene have been linked to several genetic disorders, including autosomal recessive spastic paraplegia type 32 (ARSP32) and autosomal recessive spastic ataxia type 11 (ARSA11). These disorders are characterized by progressive muscle weakness, spasticity, and ataxia. Research on KAT8 continues to focus on understanding its role in cellular transport and its potential as a therapeutic target for related disorders.