Application of aprataxin gene to diagnosis and treatment for...

Details Application of aprataxin gene to diagnosis and treatment for... Application of aprataxin gene to diagnosis and treatment for...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07K 14/47 (2006.01) C12N 15/63 (2006.01) C12N 15/86 (2006.01) C12Q 1/68 (2006.01) A61K 38/17 (2006.01)

Patent

CA 2373466

The present invention provides an aprataxin gene involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) and a protein encoded by the gene; and application of a mutant aprataxin gene involved in the onset of EAOH and a protein encoded by the mutant gene to treatment and diagnosis of the disease. The present invention also provides a human aprataxin protein or a gene for treatment of early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and a human aprataxin gene DNA or fragments thereof for detecting EAOH.

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