Calcium-Transporter 2
Das TRPV5-Gen kodiert einen calcium-selectiven Kanal. Dieser Locus wurde in epidemiologischen Studien mit einer erhöhten Neigung zu Nierensteinbildung in Zusammenhang gebracht.
Diagnostik:
Krankheiten:
Referenzen:
| 1. |
Chang Q et. al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.
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| 2. |
Müller D et. al. (2000) Gene structure and chromosomal mapping of human epithelial calcium channel.
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| 3. |
Müller D et. al. (2000) Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).
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| 4. |
Peng JB et. al. (2001) Structural conservation of the genes encoding CaT1, CaT2, and related cation channels.
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| 5. |
Suzuki M et. al. (2002) A single amino acid mutation results in a rapid inactivation of epithelial calcium channels.
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| 6. |
Hoenderop JG et. al. (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.
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| 7. |
van der Eerden BC et. al. (2005) The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption.
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