NEW HUMAN DACHSOUS GENE AND PROTEIN ENCODED BY THE SAME

摘要

PROBLEM TO BE SOLVED: To obtain a new gene which is thought to carry out an essential role on diagnosing and treating related diseases showing the symptoms similar to the Freeman-Sheldon syndrome. SOLUTION: This gene consists of the gene encoding the following (a) or (b) protein. (a) A protein comprising the amino acid sequence homologous or substantially homologous to the amino acid sequence represented by the sequence number: 2. (b) A protein which comprises the amino acid sequence obtained by deleting, substituting or adding a part of amino acid to the amino acid sequence represented by the sequence number: 2 and exhibits the biological activity substantially homologous to that of human dachsous protein or drosophila dachsous protein and a recombinant human dachsous protein encoded by the above gene.