ATP6V0A2 : ATPase H+ transporting V0 subunit a2
Description
The ATP6V0A2 (ATPase H+ transporting V0 subunit a2) is a protein-coding gene located on chromosome 12.
The ATP6V0A2 gene provides instructions for making the a2 subunit of the vacuolar H+-ATPase (V-ATPase) protein complex. V-ATPases function as pumps that move protons across cell membranes, regulating pH levels in cells and their surroundings. This is crucial for many biological reactions. Within cells, V-ATPases help maintain pH in compartments like endosomes and lysosomes, which digest and recycle cellular materials. Research suggests V-ATPases are involved in vesicle movement, transporting various molecules within cells. They also play a key role in glycosylation, where proteins are modified by adding sugars, which is essential for many protein functions. V-ATPases regulate pH in the Golgi apparatus, where glycosylation occurs.
The ATP6V0A2 gene encodes a subunit of the V0 complex of vacuolar (H+)-ATPase (V-ATPase), a multi-subunit enzyme responsible for acidifying intracellular compartments. The V-ATPase is composed of two complexes: the V1 complex, which hydrolyzes ATP, and the V0 complex, which translocates protons. The ATP6V0A2 protein is essential for maintaining the pH of intracellular compartments, including endosomes and lysosomes. It is also involved in the trafficking of vesicles and the glycosylation process in the Golgi apparatus. In some cell types, ATP6V0A2 is targeted to the plasma membrane, where it contributes to acidifying the extracellular environment. Additionally, it plays a role in intracellular iron homeostasis by regulating the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, leading to HIF1A hydroxylation and subsequent proteasomal degradation. ATP6V0A2 interacts with PSCD2 and SPAAR, and disruption of its interaction with PSCD2 inhibits endocytosis.
ATP6V0A2 is also known as A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V.
Associated Diseases
- Wrinkly skin syndrome
- Cutis laxa, autosomal recessive, type IIA
- Autosomal recessive cutis laxa type 2, classic type
- Cutis laxa
