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Mutations in ATP2B3 gene is associated with aldosterone-producing adenomas.
Different mutations (KCNJ5 (show KCNJ5 ELISA Kits), ATP1A1 (show ATP1A1 ELISA Kits), ATP2B3, and CACNA1D (show CACNA1D ELISA Kits)) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified.
Novel PMCA3 missense mutation co-occurring with a heterozygous mutation in LAMA1 (show LAMA1 ELISA Kits) impaired cellular Ca2 (show CA2 ELISA Kits)+ homeostasis in patients with Cerebellar Ataxia (show USP14 ELISA Kits).
Somatic mutations found in KCNJ5 (show KCNJ5 ELISA Kits), ATP1A1 (show ATP1A1 ELISA Kits), and ATP2B3 appear to be the driving forces for a higher aldosterone production and proliferations of glomerulosa cells.
ATP2B3 mutations are present in aldosterone-producineg adenomas that result in an increase in CYP11B2 (show CYP11B2 ELISA Kits) gene expression and may account for the dysregulated aldosterone production in a subset of patients with sporadic primary aldosteronism.
Somatic mutations in ATP2B3 gene leads to aldosterone-producing adenomas and secondary hypertension.
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia (show USP14 ELISA Kits) impairs Ca2 (show CA2 ELISA Kits)+ homeostasis.
role in the intracellular Ca(2 (show CA2 ELISA Kits)+) extrusion of syncytiotrophoblast-like structure originating from the differentiation of cultured trophoblast cells isolated from human term placenta
Expression of the placental calcium transporter PMCA3 mRNA predicts neonatal whole body bone mineral content
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified.
ATPase, Ca++ transporting, plasma membrane 3
, plasma membrane calcium ATPase-like
, plasma membrane calcium ATPase
, plasma membrane calcium pump
, plasma membrane calcium-transporting ATPase 3
, plasma membrane calcium ATPase 3
, plasma membrane calcium ATPase 3a