ATP6AP1L
Description
The ATP6AP1L (ATPase H+ transporting accessory protein 1 like (pseudogene)) is a pseudo gene located on chromosome 5.
ATP6AP1L is a gene that encodes a protein subunit of the vacuolar H+-ATPase (V-ATPase). This enzyme complex is responsible for pumping protons across cellular membranes, which is essential for many cellular processes, including acidification of intracellular compartments, endocytosis, and exocytosis. Mutations in this gene have been linked to several human diseases, including intellectual disability, epilepsy, and autism spectrum disorder.
ATP6AP1L is a protein-coding gene that is involved in the regulation of intracellular pH. The protein encoded by this gene is a subunit of the vacuolar H+-ATPase (V-ATPase), a multisubunit enzyme complex that pumps protons across cellular membranes. The V-ATPase is essential for many cellular processes, including acidification of intracellular compartments, endocytosis, and exocytosis. Mutations in ATP6AP1L have been linked to a number of human diseases, including intellectual disability, epilepsy, and autism spectrum disorder. This gene is expressed in the brain and other tissues.
ATP6AP1L is also known as -.
