Plasmamembran Calcium-transportierende ATPase 3
Das ATP2B3-Gen kodiert eine Calcium-ATPase, die wenn in der Nebenniere somatisch mutiert eine aldosteron-produzierendes Andenom auslösen kann.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020