Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

Referenzen:

1.

Beuschlein F et. al. (2013) Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

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2.

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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3.

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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4.

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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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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