hKCa3/KCNN3 small conductance calcium activated potassium channe

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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4352542, 435 691, 536 231, 536 243, 536 2431, 536 2432, 536 2433, C12Q 168, C12N 119, C12P 2100, C07H 2102, C07H 2104

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061657190

ABSTRACT:
The present invention is based on the discovery and cloning of the human small conductance calcium activated potassium channel type 3 (hKCa3/KCNN3) gene, which is expressed in neuronal cells, skeletal muscle, heart, and lymphocytes. Alterations in the hKCa3/KCNN3 gene or its protein product may enhance susceptibility to schizophrenia and/or bipolar disorder. hKCa3/KCNN3 may be involved in neuropsychiatric, neurological, neuromuscular, and immunological disorders. Substantially purified hKCa3/KNN3 polypeptides and polynucleotides are provided. Antibodies which bind to hKCa3/KCNN3 polypeptides are also disclosed. A method for identifying a compound which affects hKCa3/KCNN3 polynucleotide or polypeptide is provided. A method for diagnosis and determining the prognosis and treatment regimen of a subject having or at risk of having a hKCa3/KCNN3-associated disorder is also provided. A method of treating a subject having or at risk of having an hKCa3/KCNN3-associated disorder by administering a therapeutically effective amount of a polynucleotide encoding SEQ ID NO:2 is also provided. A formulation for administration of hKCa3/KCNN3 to a patient of a therapeutically effective amount of hKCa3/KCNN3 polypeptide is provided. Kits useful for detecting the presence of hKCa3/KCNN3 polypeptide or polynucleotide in a sample from a subject having a hKCa3/KCNN3-associated disorder are provided. Transgenic nonhuman animals having a transgene encoding hKCa3/KCNN3 are also described.

REFERENCES:
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P Sanjeeva Reddy, The complex pathology of trinucleotide repeats, Nucleus and gene expression, pp. 364-372.
Georges Imbert, Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats, Nov. 1996, Nature Genetics vol. 14 No. 3.
M. Kohler, Small-Conductance, Calcium-Activated Potassium Channels from Mammalian Brain, Sep. 1996, Science, vol. 273 pp. 1625-1764.
William J. Joiner, hSK4, a member of a novel subfamily of calcium-activated potassium channels, Sep. 1997, Neurobiology, vol. 94 pp. 11013-11018.
Kohler et al., Small Conductance, Calcium-Activated Potassium Channels from Mammalian Brain. Science. Sep. 20, 1996, vol. 273, pp. 1709-1714, expecially figures 1A and 1C on p. 1710.

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