Claims
- 1. An antibody that binds to a polypeptide comprising an amino acid sequence as set forth in SEQ ID NO: 2 or SEQ ID NO: 4, or a fragment of said polypeptide.
- 2. The antibody of claim 1, wherein the polypeptide is from a mammal.
- 3. The antibody of claim 2, wherein the polypeptide is from a human.
- 4. The antibody of claim 1, wherein the antibody is monoclonal.
- 5. The antibody of claim 1, wherein the antibody is polyclonal.
- 6. The antibody of claim 1, wherein the antibody is an antibody fragment.
- 7. The antibody of claim 1, wherein the antibody is detectably labeled.
- 8. The antibody of claim 7, wherein the label is a radioisotope, a bioluminescent compound, a chemiluminescent compound, a fluorescent compound, a metal chelate, a phosphorescent compound, or an enzyme.
- 9. The antibody of claim 1, wherein the antibody is bound to a carrier.
- 10. The antibody of claim 9, wherein the carrier is glass, polystyrene, polypropylene, polyethylene, dextran, nylon, amylase, cellulose, polyacrylamide, agarose or magnetite.
- 11. The antibody of claim 1, wherein the antibody is coupled to a hapten.
- 12. The antibody of claim 11, wherein the hapten is biotin, dinitrophenyl, puridoxal, or fluorescein.
- 13. The antibody of claim 1, wherein the epitope to which the antibody binds comprises at least amino acid residue 395 of SEQ ID NO: 2 or 4.
- 14. The antibody of claim 13, wherein the epitope to which the antibody binds comprises at least amino acid residue 395 of SEQ ID NO: 4.
- 15. The antibody of claim 1, which binds to a polypeptide comprising an amino acid sequence as set forth in SEQ ID NO: 2.
- 16. The antibody of claim 1, which binds to a polypeptide comprising an amino acid sequence as set forth in SEQ ID NO: 4.
- 17. The antibody of claim 15, which does not bind to a polypeptide comprising an amino acid sequence as set forth in SEQ ID NO: 4.
- 18. The antibody of claim 16, which does not bind to a polypeptide comprising an amino acid sequence as set forth in SEQ ID NO: 2
- 19. The antibody of claim 18, which detects an 1395M mutation.
- 20. An antibody that binds to a mutant ABC7 polypeptide, wherein the polypeptide is expressed in a subject having, or at risk for having, X-linked Sideroblastic Anemia and Ataxia.
- 21. The antibody of claim 20, wherein the mutant ABC7 polypeptide comprises an amino acid sequence as set forth in SEQ ID NO: 4.
- 22. The antibody of claim 21, wherein the antibody detects an 1395M mutation in the mutant ABC7 polypeptide.
- 23. The antibody of claim 20, wherein the antibody is monoclonal.
- 24. The antibody of claim 20, wherein the antibody is polyclonal.
- 25. The antibody of claim 20, wherein the antibody is an antibody fragment.
- 26. A kit useful for the detection of an ATP-binding transporter-7 (ABC7) polypeptide comprising carrier means containing therein one or more containers wherein a first container contains an antibody of claim 1.
- 27. The kit of claim 26, wherein the antibody is detectably labeled.
- 28. The kit of claim 27, wherein the label is selected from the group consisting of radioisotope, a bioluminescent compound, a chemiluminescent compound, a fluorescent compound, a metal chelate, and an enzyme.
CROSS REFERENCE TO RELATED APPLICATIONS
[0001] This is a divisional of co-pending U.S. patent application Ser. No. 09/422,840, filed Oct. 21, 1999, now allowed, which claims the benefit of U.S. provisional application No. 60/105,497, filed Oct. 23, 1998, each of which is incorporated in its entirety herein by reference.
Provisional Applications (1)
|
Number |
Date |
Country |
|
60105497 |
Oct 1998 |
US |
Divisions (1)
|
Number |
Date |
Country |
Parent |
09422840 |
Oct 1999 |
US |
Child |
10762596 |
Jan 2004 |
US |