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

KCNA1-Gen

Das Protein, welches durch das KCNA1-Gen kodiert wird, ist ein Kaliumkanal. Mutationen führen zur autosomal dominanten episodischen Ataxie oder zum Myokymie-Syndrom Typ 1, welches durch Hypomagnesiämie gekennzeichnet ist.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch 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:

Hereditäre Myokymie Typ 1
KCNA1

Referenzen:

1.

Herson PS et al. (2003) A mouse model of episodic ataxia type-1.

external link
2.

Scheffer H et al. (1998) Three novel KCNA1 mutations in episodic ataxia type I families.

external link
3.

Smart SL et al. (1998) Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

external link
4.

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

external link
5.

Adelman JP et al. (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions.

external link
6.

Albrecht B et al. (1995) Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13.

external link
7.

Browne DL et al. (1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

external link
8.

Klocke R et al. (1993) Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.

external link
9.

Chandy KG et al. (1990) A family of three mouse potassium channel genes with intronless coding regions.

external link
10.

Cuello LG et al. (2010) Structural basis for the coupling between activation and inactivation gates in K(+) channels.

external link
11.

Ramaswami M et al. (1990) Human potassium channel genes: Molecular cloning and functional expression.

external link
12.

Tombola F et al. (2007) The twisted ion-permeation pathway of a resting voltage-sensing domain.

external link
13.

Beraud E et al. (2006) Block of neural Kv1.1 potassium channels for neuroinflammatory disease therapy.

external link
14.

Raab-Graham KF et al. (2006) Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites.

external link
15.

Cirelli C et al. (2005) Reduced sleep in Drosophila Shaker mutants.

external link
16.

Gubitosi-Klug RA et al. (2005) The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.

external link
17.

Curran ME et al. (1992) Molecular cloning, characterization, and genomic localization of a human potassium channel gene.

external link
18.

Eunson LH et al. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

external link
19.

Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

external link
20.

Glaudemans B et al. (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

external link
21.

Browne DL et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

external link
22.

Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).

external link
23.

Zuberi SM et al. (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

external link
24.

Larsson HP et al. (2000) A conserved glutamate is important for slow inactivation in K+ channels.

external link
25.

Zhou M et al. (2001) Potassium channel receptor site for the inactivation gate and quaternary amine inhibitors.

external link
26.

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

external link
27.

Morais-Cabral JH et al. (2001) Energetic optimization of ion conduction rate by the K+ selectivity filter.

external link
28.

Zhou Y et al. (2001) Chemistry of ion coordination and hydration revealed by a K+ channel-Fab complex at 2.0 A resolution.

external link
29.

Bernèche S et al. (2001) Energetics of ion conduction through the K+ channel.

external link
30.

Gu C et al. (2003) A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels.

external link
31.

Oliver D et al. (2004) Functional conversion between A-type and delayed rectifier K+ channels by membrane lipids.

external link
32.

Orphanet article

Orphanet ID 122756 external link
33.

NCBI article

NCBI 3736 external link
34.

OMIM.ORG article

Omim 176260 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