Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

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 [^]
9.

OMIM.ORG article

Omim 300014 [^]
10.

Orphanet article

Orphanet ID 311398 [^]
Update: 29. April 2019