Assignment of human G-protein-coupled inward rectifier K{sup +} channel homolog GIRK3 gene to chromosome 1q21-q23
- CNRS, Valbonne (France); and others
More than 20 genes that encode voltage-gated and Ca{sup 2+}-dependent K{sup +} channels have been identified. These channels are involved in a wide variety of biological functions such as neuronal and muscle excitability, hormone secretion, and osmotic regulation. Two voltage-gated K{sup +} channel genes, KCNA1 and HERG, have been related to neurological and cardiac inherited disorders in humans. Missense mutations in the KCNA1 gene lead to episodic ataxia/myokimia syndrome. Missense, splice donor, and deletion mutations in the HERG gene have been shown to cause long QT syndrome. These two channels belong to the superfamily of cationic channels, which share the characteristic structural features of six transmembrane domains and one segment (called 115) involved in pore formation. 17 refs., 1 fig.
- OSTI ID:
- 443889
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 29; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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