Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Natrium/Kalium-ATPase, Untereinheit alpha 1

Das ATP1A1-Gen kodiert eine Natrium/Kalium-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.

Herrera VL et al. (1990) Alteration of alpha 1 Na+,K(+)-ATPase 86Rb+ influx by a single amino acid substitution.

external link
2.

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

external link
3.

Morth JP et al. (2007) Crystal structure of the sodium-potassium pump.

external link
4.

Barnard R et al. (2001) Neither the New Zealand genetically hypertensive strain nor Dahl salt-sensitive strain has an A1079T transversion in the alpha1 isoform of the Na(+),K(+)-ATPase gene.

external link
5.

Glorioso N et al. (2001) Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension.

external link
6.

James PF et al. (1999) Identification of a specific role for the Na,K-ATPase alpha 2 isoform as a regulator of calcium in the heart.

external link
7.

Herrera VL et al. (1998) The alpha1 Na,K-ATPase gene is a susceptibility hypertension gene in the Dahl salt-sensitiveHSD rat.

external link
8.

Ruiz-Opazo N et al. (1994) Confirmation of mutant alpha 1 Na,K-ATPase gene and transcript in Dahl salt-sensitive/JR rats.

external link
9.

Dahl LK et al. (1974) Genetic influence of the kidneys on blood pressure. Evidence from chronic renal homografts in rats with opposite predispositions to hypertension.

external link
10.

Shull MM et al. (1987) Multiple genes encode the human Na+,K+-ATPase catalytic subunit.

external link
11.

Ovchinnikov YuA et al. (1987) The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit.

external link
12.

Chehab FF et al. (1987) Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization.

external link
13.

Sverdlov ED et al. (1987) Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism.

external link
14.

Kent RB et al. (1987) Genes encoding alpha and beta subunits of Na,K-ATPase are located on three different chromosomes in the mouse.

external link
15.

Yang-Feng TL et al. (1988) Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

external link
16.

Kawakami K et al. (1986) Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence.

external link
17.

Azizan EA et al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

external link
18.

Orphanet article

Orphanet ID 366774 external link
19.

NCBI article

NCBI 476 external link
20.

OMIM.ORG article

Omim 182310 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz