ATP2B1 and Associated Diseases

With extensive expertise spanning more than a decade, Creative Biolabs stands out as a premier service provider in the field of developing gene therapies. In addition to offering a full variety of gene therapy products and testing services, we combine worldwide resources to offer comprehensive support knowledge regarding the ATP2B1 gene and related diseases. Your research and development will benefit immensely from the assistance of our specialists, who are eager to help you comprehend the molecular pathophysiology involved in diseases related to ATP2B1.

Background of ATP2B1

P-type primary ion transport ATPase is involved in the formation of an aspartyl phosphate intermediate. During the reaction cycle, the plasma membrane Ca²⁺ATPase (PMCA pump) removes bivalent calcium ions from eukaryotic cells, which plays an important role in the reduction of high-concentration gradients and maintenance of intracellular calcium homeostasis.

The plasma membrane Ca²⁺ ATPase is composed of several isoforms encoded by at least 4 separate genes. The ATP2B1 gene on chromosome 12q encodes ATPase plasma membrane Ca²⁺ transporting 1 (PMCA1). PMCA1 enables binding to ATP, calmodulin, metal ions, PDZ domain, and proteins. It activates ATP hydrolysis, ATPase-coupled cation transmembrane transporter, and P-type calcium transporter. P-type calcium transporter then regulates the presynaptic cytosolic calcium ion concentration. The ATP2B1 gene-encoded protein is involved in multiple biological processes, including calcium ion transport, regulation of blood pressure, cardiac conduction, and vascular-associated smooth muscle contraction. In addition, PMCA1 is also associated with the brain development, neural retina development, and aging.

Fig.1 Model of plasma membrane calcium ATPase as a regulator of signal transduction pathways. (Holton, 2010)

ATP2B1 Associated Diseases

Mutations of the ATP2B1 gene cause a range of disorders. Re-wiring and gene expression alteration of the ATP2B1 gene play a critical role in breast cancer progression. The neurodevelopmental delay results from de novo variants in ATP2B1. Polymorphisms of ATP2B1 cause eclampsia and hypertension. It has been demonstrated that the specific knockout of ATP2B1 in vascular smooth muscle cells could lead to hypertension by augmenting vascular contractility and increasing the Ca²⁺ levels.

Mutations in ATP2B1 are related to a variety of disorders. Future efforts to create gene therapies will center on understanding the etiology of ATP2B1-associated diseases. Frontier biotech company Creative Biolabs is committed to providing exceptional products and services in the gene therapy industry. Our team provides cutting-edge support knowledge on ATP2B1 and related diseases to researchers throughout the world. Please do not hesitate to contact us if you would like more information about the ATP2B1 gene and the diseases associated with it.

Reference

1. Holton, M. L.; et al. Plasma membrane calcium ATPase proteins as novel regulators of signal transduction pathways. World journal of biological chemistry. 2010. 1(6): 201.