| 摘要 |
The present invention discloses the amino acid and nucleic acid sequences of a new CNGC and Myosin that map to the region of the human chromosome associated with Bardet-Biedl Syndrome. Cyclic nucleotide gated channels (CNGCs) comprise a family of multimeric protein ion channels that open in response to the binding of a cyclic nucleotide to an intracellular domain. The two new proteins, CNGC-15 and Myosin IXa, are useful in the study, diagnosis and treatment of Bardet-Biedl Syndrome and Usher Syndrome. Other indications that can be treated by CNGC-15 and/or Myosin IXa polypeptides, or agonists or antagonists include hearing loss, retinis pigmentosa, obesity, hypogonadism, sterility, polydactyly, brachydactyly, syndactyly, mental retardation, renal abnormalities, hypertension, diabetes and cardiovascular abnormalities.Compositions and methods for expressing cyclic nucleotide gated channel-15 (CNGC-15) and Myosin IXa are provided. The compositions comprise CNGC-15 and Myosin IXa polypeptides and derivatives thereof, nucleotide sequences, expression cassettes, transformed cells and antibodies to these polypeptides. Methods for the expression and detection of CNGC-15 and Myosin IXa nucleotides and polypeptides and compositions for the treatment of these conditions are provided. |
