ATP2B4
ATP2B4: The Membrane Transporter with Multiple Roles
Description
ATP2B4, also known as plasma membrane calcium-transporting ATPase 4, is a protein that belongs to the P-type ATPase family of ion transporters. It is primarily responsible for transporting calcium ions (Ca2+) across the plasma membrane of cells, maintaining proper intracellular calcium homeostasis. By regulating calcium influx and efflux, ATP2B4 plays a crucial role in various cellular processes, including muscle contraction, nerve impulse transmission, and immune responses.
Associated Diseases
Mutations in the ATP2B4 gene have been linked to several inherited disorders:
- Cerebellar Ataxia with Intellectual Disability (CAID): A rare neurological condition characterized by progressive degeneration of the cerebellum, leading to impaired coordination, speech difficulties, and intellectual disability.
- Spastic Paraplegia Type 46 (SPG46): A genetic disorder affecting the spinal cord and lower limbs, resulting in progressive stiffness and weakness.
- Non-syndromic Hearing Loss (NSHL): A genetic form of hearing impairment that is not associated with other medical conditions.
Did you Know ?
Approximately 1 in 32,000 individuals worldwide are estimated to have mutations in the ATP2B4 gene, leading to CAID or SPG46. The prevalence of NSHL due to ATP2B4 mutations is not well established but is considered rare.
