ATP-binding transporter (ABC7) and methods for detection of anemia and ataxia

US6867017B1 · kind B1 · utility

Assignee

• The United States of America, as represented by the Department of Health and Human Services · US

Inventors

• Michael Dean · Frederick, US
• Rando Allikmets · Frederick, US
• Amy Ann Hutchinson · Fort Lee, US

Key dates

• Filing date: Oct 21, 1999
• Grant date: Mar 15, 2005
• Expiry date: Oct 21, 2019

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2333/705
• WIPO field: Organic fine chemistry
• WIPO sector: Chemistry

Abstract

Disclosed is a novel ATP-binding cassette gene (ABC7), polypeptide and methods of detecting mutations therein. Further, the disclosure provides methods of detecting ABC7 associated disease and treatments thereof. In particular, the disclosure provides methods of detecting X-linked Sideroblastic Anemia and Ataxia associated with a mutation in the ABC7 polypeptide.