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

Einwärts gerichteter Kaliumkanal 2

Das KCNJ2-Gen kodiert einen Kaliumkanal der bei der Reizleitung des herzens beteiligt ist. Mutationen führen zum autosomal dominanten Short-QT-Syndrom 3.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Short-QT-Syndrom 3
KCNJ2

Referenzen:

1.

Doyle DA et al. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

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2.

Luo X et al. (2013) MicroRNA-26 governs profibrillatory inward-rectifier potassium current changes in atrial fibrillation.

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3.

Epshtein Y et al. (2009) Identification of a C-terminus domain critical for the sensitivity of Kir2.1 to cholesterol.

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4.

Rodríguez-Menchaca AA et al. (2008) The molecular basis of chloroquine block of the inward rectifier Kir2.1 channel.

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5.

Bendahhou S et al. (2007) Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

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6.

Choi BO et al. (2007) Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

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7.

Lu CW et al. (2006) Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

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8.

Davies NP et al. (2005) Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

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9.

Xia M et al. (2005) A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.

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10.

Donaldson MR et al. (2003) PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

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11.

Miake J et al. (2002) Biological pacemaker created by gene transfer.

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12.

Tristani-Firouzi M et al. (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

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13.

Andelfinger G et al. (2002) KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

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14.

Preisig-Müller R et al. (2002) Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

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15.

Pham TV et al. (2002) Sex, hormones, and repolarization.

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16.

Wolbrette D et al. (2002) Gender differences in arrhythmias.

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17.

Plaster NM et al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

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18.

Derst C et al. (2001) Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.

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19.

Raab-Graham KF et al. (1994) Molecular cloning and expression of a human heart inward rectifier potassium channel.

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20.

Kubo Y et al. (1993) Primary structure and functional expression of a mouse inward rectifier potassium channel.

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21.

Priori SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

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22.

Lopes CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.

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23.

Lu Z et al. (2001) Ion conduction pore is conserved among potassium channels.

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24.

NCBI article

NCBI 3759 external link
25.

OMIM.ORG article

Omim 600681 external link
26.

Orphanet article

Orphanet ID 122791 external link
Update: 14. August 2020
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