Human uridine disphosphate galactose-4-epimerase

• US 6,451,577 B1
• Filed: 07/24/2000
• Issued: 09/17/2002
• Est. Priority Date: 05/11/1995
• Status: Expired due to Fees

• Current Assignee: Human Genome Sciences Incorporated (GSK plc)
• Original Assignee: Human Genome Sciences Incorporated (GSK plc)
• Inventors: Ji, Hongjun, Rosen, Craig A.
• Primary Examiner(s): Achutamurthy, Ponnathapu
• Application Number:
  US09/624,183
• Time in Patent Office: 785 Days
• Field of Search: 435/233, 435/6, 435/252.3, 435/440, 536/23.2
• US Class Current: 435/233
• CPC Class Codes: A61P 1/16 for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
• CPC Class Codes: A61P 13/02 of urine or of the urinary tract, e.g. urine acidifiers
• CPC Class Codes: A61P 15/00 Drugs for genital or sexual disorders for disorders of sex hormones A61P5/24; Contraceptives
• CPC Class Codes: A61P 25/00 Drugs for disorders of the nervous system
• CPC Class Codes: A61P 27/02 Ophthalmic agents
• CPC Class Codes: A61P 43/00 Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
• CPC Class Codes: C12N 9/90 Isomerases (5.)

Abstract

A human UDP galactose-4-epimerase polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for the treatment of galactosemia. Also disclosed are diagnostic assays for the detection of mutations in the nucleic acid sequencing encoding human UDP galactose-4-epimerase protein and for detecting an altered level of human UDP galactose-4-epimerase protein in a sample derived from a host.

Claims

1. An isolated protein having uridine diphosphate galactose-4-epimerase activity comprising an amino acid sequence selected from the group consisting of:

(a) amino acid residues 1 to 348 of SEQ ID NO;

2; and

(b) amino acid residues 2 to 348 of SEQ ID NO;

2.

2. The isolated protein of claim 1 which comprises amino acid sequence (a).

3. The isolated protein of claim 1 which comprises amino acid sequence (b).

4. The isolated protein of claim 1 wherein the amino acid sequence comprises a heterologous polypeptide.

5. The isolated protein of claim 1 wherein said isolated protein is glycosylated.

6. A composition comprising the isolated protein of claim 1.

7. The composition of claim 6, wherein the composition further comprises a liposome.

8. The protein of claim 1 produced by a method comprising:

(a) culturing a host cell expressing the protein under suitable conditions; and

(b) recovering the expressed protein from the host cell culture.

17. A method for the treatment of a patient having need of human UDP galactose-4-epimerase comprising administering to the patient a therapeutically effective amount of the isolated protein of claim 1.

9. An isolated protein comprising an amino acid sequence selected from the group consisting of:

(a) the amino acid sequence of the full length human uridine diphosphate galactose-4-epimerase polypeptide encoded by the cDNA in ATCC Deposit No. 97112; and

(b) the amino acid sequence of the full-length human uridine diphosphate galactose-4-epimerase polypeptide, excluding the N-terminal methionine residue, encoded by the human cDNA clone contained in ATCC Deposit No. 97112.

10. The isolated protein of claim 9 which comprises amino acid sequence (a).

11. The isolated protein of claim 9 which comprises amino acid sequence (b).

12. The isolated protein of claim 9 wherein the amino acid sequence comprises a heterologous polypeptide.

13. The isolated protein of claim 9 wherein said isolated protein is glycosylated.

14. A composition comprising the isolated protein of claim 9.

15. The composition of claim 9, wherein the composition further comprises a liposome.

16. The protein of claim 9 produced by a method comprising:

(a) culturing a host cell expressing the protein under suitable conditions; and

(b) recovering the expressed protein from the host cell culture.

18. A method for the treatment of a patient having need of human UDP galactose-4-epimerase comprising administering to the patient a therapeutically effective amount of the isolated protein of claim 9.