MYO5C

MYO5C is a protein that in humans is encoded by the MYO5C gene. This gene is located on chromosome 19q13.3. MYO5C is a member of the myosin V family of motor proteins, which are involved in various cellular processes such as intracellular transport, cell division, and cell motility. The MYO5C protein is composed of a motor domain, a neck region, and a tail region. The motor domain is responsible for the ATP-dependent movement of the protein along actin filaments, while the neck and tail regions are involved in cargo binding and regulation of motor activity.

The MYO5C gene is expressed in a wide range of tissues, including muscle, brain, and kidney. In muscle cells, MYO5C is involved in the regulation of muscle contraction and relaxation. In brain cells, MYO5C is involved in the transport of vesicles and other cargo along actin filaments. In kidney cells, MYO5C is involved in the regulation of cell volume and shape.

Mutations in the MYO5C gene have been associated with several genetic disorders, including myopathy, intellectual disability, and kidney disease. These mutations can affect the structure and function of the MYO5C protein, leading to impaired cellular processes and organ dysfunction. The specific clinical manifestations of MYO5C-related disorders can vary depending on the type and severity of the mutation.