Patent Number: 6,165,719

Title: hKCa3/KCNN3 small conductance calcium activated potassium channel: a diagnostic marker and therapeutic target

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.

Inventors: Chandy; K. George (Laguna Beach, CA), Gargus; J. Jay (Irvine, CA), Gutman; George (Costa Mesa, CA), Fantino; Emmanuelle (Tustin, CA), Kalman; Katarin (Irvine, CA)

Assignee: The Regents of the University of California

International Classification: C07K 14/435 (20060101); C07K 14/705 (20060101); A61K 38/00 (20060101); A61K 48/00 (20060101); C12Q 001/68 (); C12N 001/19 (); C12P 021/00 (); C07H 021/02 (); C07H 021/04 ()

Expiration Date: 12/26/2017