Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ATP2B3 gene encodes a calcium ATPase which when somatically mutated in adrenal cells may cause aldosterone producing adenomas.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Brandt P et al. (1992) Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels. 
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| 2. |
Wang MG et al. (1994) Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively.
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| 3. |
Beuschlein F et al. (2013) Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
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| 4. |
Stahl WL et al. (1992) Plasma membrane Ca(2+)-ATPase isoforms: distribution of mRNAs in rat brain by in situ hybridization.
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| 5. |
Brown BJ et al. (1996) Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3.
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| 6. |
Bertini E et al. (2000) X-linked congenital ataxia: a clinical and genetic study.
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| 7. |
Zanni G et al. (2012) Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
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| 8. |
NCBI article NCBI 492
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| 9. |
OMIM.ORG article Omim 300014
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| 10. |
Orphanet article Orphanet ID 311398
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| 11. |
Wikipedia article Wikipedia EN (ATP2B3)
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