ABCA13 Nucleic Acids and Proteins, and Uses Thereof
Description of Invention:
This technology relates to the identification of a novel gene in the ABC (ATP-binding cassette transporter) gene superfamily, the ABCA13 gene. The ABC proteins are involved in extra- and intracellular membrane transport of various substrates such as ions, amino acids, peptides, sugars, vitamins, or steroid hormones and at least 14 members of the ABC gene superfamily have been described as associated with human disease. ABCA13 has high similarity with other ABCA subfamily genes that are associated with human inherited diseases. This includes ABCA1, the gene responsible for the cholesterol transport disorders Tangier disease and familial hypoalphalipoproteinemia, and ABCA4, the gene responsible for several retinal degeneration disorders. The ABCA13 gene is expressed in trachea, testes, and bone marrow. The ABCA13 gene maps to chromosome 7p12.3, a region that contains an inherited disorder affecting the pancreas and bone marrow (Shwachman-Diamond syndrome) as well as a locus involved in T-cell tumor invasion and metastasis (INM7), and therefore is a positional candidate for these disorders.
Inventors:
Michael Dean et al. (NCI)
Patent Status:
DHHS Reference No. E-304-2000/0
Licensing Status: This technology is no longer available for licensing.
Portfolios: Cancer
Cancer -Diagnostics Cancer -Therapeutics
For Additional Information Please Contact: Thomas P. Clouse J.D.
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301)435-4076
Email: clousetp@mail.nih.gov
Fax: (301) 402-0220
