ATP2B3 Antibody

1. Authors report a novel PMCA3 mutation (G733R substitution) in the catalytic P-domain of the pump in a patient affected by non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus. PMID: 28807751
2. The ataxia related G1107D mutation of the PMCA 3 impairs its calcium pumping function. The mutation affects the interplay of calmodulin with its binding domain on the pump, decreasing its stimulation. PMID: 27632770
3. In summary, the APA-associated ATP2B3(Leu425_Val426del) mutant promotes aldosterone production by at least 2 different mechanisms: 1) a reduced Ca(2+) export due to the loss of the physiological pump function; and 2) an increased Ca(2+) influx due to opening of depolarization-activated Ca(2+) channels as well as a possible Ca(2+) leak through the mutated pump. PMID: 27035656
4. Mutations in ATP2B3 gene is associated with aldosterone-producing adenomas. PMID: 26285814
5. Novel PMCA3 missense mutation co-occurring with a heterozygous mutation in LAMA1 impaired cellular Ca2+ homeostasis in patients with Cerebellar Ataxia. PMID: 25953895
6. ATP2B3 mutations are present in aldosterone-producineg adenomas that result in an increase in CYP11B2 gene expression and may account for the dysregulated aldosterone production in a subset of patients with sporadic primary aldosteronism. PMID: 24082052
7. Somatic mutations in ATP2B3 gene leads to aldosterone-producing adenomas and secondary hypertension. PMID: 23416519
8. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. PMID: 22912398
9. Expression of the placental calcium transporter PMCA3 mRNA predicts neonatal whole body bone mineral content PMID: 17336174

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HGNC: 816

OMIM: 300014

KEGG: hsa:492

STRING: 9606.ENSP00000263519

UniGene: Hs.533956