Human oxalyl-CoA decarboxylase

Abstract

A human oxalyl-COA decarboxylase polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques and for producing an antibody against such polypeptide are disclosed. Also disclosed is a combination of the polypeptide of the present invention and a suitable pharmaceutical carrier for providing a therapeutically effective amount of the polypeptide for the treatment of urolithiasis and hyperoxaluria. Also disclosed are assays for identifying mutations in nucleic acid sequence encoding a polypeptide of the present invention and for detecting altered levels of the polypeptide of the present invention.

What is claimed is:  
     
         1 . An isolated polynucleotide comprising a member selected from the group consisting of: 
 (a) a polynucleotide encoding the polypeptide comprising amino acid 1 to amino acid 578 as set forth in SEQ ID NO:2;    (b) a polynucleotide capable of hybridizing to and which is at least 70% identical to the polynucleotide of (a); and    (c) a polynucleotide fragment of the polynucleotide of (a) or (b).    
     
     
         2 . The polynucleotide of  claim 1  wherein the polynucleotide is DNA.  
     
     
         3 . The polynucleotide of  claim 1  wherein the polynucleotide is RNA.  
     
     
         4 . The polynucleotide of  claim 1  wherein the polynucleotide is genomic DNA.  
     
     
         5 . An isolated polynucleotide comprising a member selected from the group consisting of: 
 (a) a polynucleotide which encodes a mature polypeptide having the amino acid sequence expressed by the DNA contained in ATCC Deposit No. ______;    (b) a polynucleotide which encodes a polypeptide having the amino acid sequence expressed by the DNA contained in ATCC Deposit No. ______;    (c) a polynucleotide capable of hybridizing to and which is at least 70% identical to the polynucleotide of (a); and    (d) a polynucleotide fragment of the polynucleotide of (a), (b) or (c).    
     
     
         6 . The polynucleotide of  claim 1  comprising the sequence as set forth in SEQ ID No. 1 from nucleotide 1 to nucleotide 1882.  
     
     
         7 . A vector containing the DNA of  claim 2 .  
     
     
         8 . A host cell genetically engineered with the vector of  claim 7 .  
     
     
         9 . A process for producing a polypeptide comprising: 
 expressing from the host cell of  claim 8  the polypeptide encoded by said DNA.    
     
     
         10 . A process for producing cells capable of expressing a polypeptide comprising genetically engineering cells with the vector of  claim 7 .  
     
     
         11 . A polypeptide selected from the group consisting of (i) a polypeptide having the deduced amino acid sequence of SEQ ID NO:2 and fragments, analogs and derivatives thereof; 
 and (ii) a polypeptide encoded by the cDNA of ATCC Deposit No. 75715 and fragments, analogs and derivatives of said polypeptide.    
     
     
         12 . The polypeptide of  claim 11  wherein the polypeptide comprises amino acid 1 to amino acid 578 of SEQ ID NO:2.  
     
     
         13 . The polypeptide of  claim 11  wherein the polypeptide comprises amino acid 1 to amino acid 578 of SEQ ID NO:2.  
     
     
         14 . A method for the treatment of a patient having need of oxalyl-CoA decarboxylase comprising: administering to the patient a therapeutically effective amount of the polypeptide of  claim 11 .  
     
     
         15 . The method of  claim 14  wherein said therapeutically effective amount of the polypeptide is administered by providing to the patient DNA encoding said polypeptide and expressing said polypeptide in vivo.  
     
     
         16 . A process for diagnosing a disease or a susceptibility to a disease related to expression of the polypeptide of  claim 11  comprising: 
 determining a mutation in a nucleic acid sequence encoding said polypeptide.  
 
     
     
         17 . A diagnostic process comprising: 
 analyzing for the presence of the polypeptide of  claim 11  in a sample derived from a host.    
     
     
         18 . The polynucleotide of  claim 2  which encodes the polypeptide comprising amino acid 1 to 578 of SEQ ID NO:2.