Fragile x related proteins, compositions and methods of maki ng and using the same

摘要

The present invention relates to substantially pure FXR1 and FXR2 proteins and isolated nucleic acid molecules encoding the same. Recombinant expression vectors comprising nucleic acid sequences that encode FXR1 and FXR2 protein are also provided. Antibodies which bind to an epitope of FXR1 or FXR2, or FMR1 protein are also provided. The present invention also relates to methods of screening individuals for FMR1 deficiency using antibodies or nucleic acid molecules of the invention and pharmaceutical kits for accomplishing the same.