Polypeptides encoding human presenilin variant

Abstract

The invention provides a polypeptide which encodes human presenilin variant. It also provides for the use of the cDNA and protein in the diagnosis, prognosis, treatment and evaluation of therapies for cancer or neurodegenerative or immune disorders. The invention further provides vectors and host cells for the production of the protein and transgenic model systems.

What is claimed is:  
     
         1 . A purified protein or a portion thereof selected from: 
 a) an amino acid sequence of SEQ ID NO:1;    b) a variant of SEQ ID NO:1;    c) an antigenic epitope of SEQ ID NO:1; and    d) a biologically active portion of SEQ ID NO:1.    
     
     
         2 . A composition comprising the protein of  claim 1  and a labeling moiety or a pharmaceutical carrier.  
     
     
         3 . A method for using a protein to screen a plurality of molecules or compounds to identify at least one ligand, the method comprising: 
 a) combining the protein of  claim 1  with the molecules or compounds under conditions to allow specific binding; and    b) detecting specific binding, thereby identifying a ligand which specifically binds the protein.    
     
     
         4 . The method of  claim 3  wherein the molecules or compounds are selected from DNA molecules, RNA molecules, peptide nucleic acids, peptides, proteins, mimetics, agonists, antagonists, antibodies, immunoglobulins, inhibitors, and drugs.  
     
     
         5 . A method of using a protein to prepare and purify antibodies comprising: 
 a) immunizing a animal with the protein of  claim 1  under conditions to elicit an antibody response;    b) isolating animal antibodies;    c) attaching the protein to a substrate;    d) contacting the substrate with isolated antibodies under conditions to allow specific binding to the protein;    e) dissociating the antibodies from the protein, thereby obtaining purified antibodies.    
     
     
         6 . An antibody produced by the method of  claim 5 .  
     
     
         7 . A method for using an antibody to detect expression of a protein in a sample, the method comprising: 
 a) combining the antibody of  claim 6  with a sample under conditions which allow the formation of antibody:protein complexes; and    b) detecting complex formation, wherein complex formation indicates expression of the protein in the sample.    
     
     
         8 . The method of  claim 7  wherein expression is compared with standards and is diagnostic of cancer.  
     
     
         9 . A method for treating a subject with cancer, a neurodegenerative disease, or an immune disorder, comprising administering to said subject the protein of  claim 1.