Genes for Niemann-Pick type C disease

US7045675B2 · kind B2 · utility

Assignee

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

Inventors

• Eugene D Carstea · Woburn, US
• Danilo A. Tagle · Gaithersburg, US
• Jill A. Morris · Doylestown, US
• Peter G. Pentchev · Kensington, US
• William J. Pavan · Derwood, US
• Melissa Ashlock · Rochester, US
• Stacie K. Loftus · Burtonsville, US
• Jessie Gu · Florham Park, US

Key dates

• Filing date: Jul 29, 2002
• Grant date: May 16, 2006
• Expiry date: Apr 27, 2024

Classification

• Technology area (CPC A): Human Necessities
• CPC primary: A61K38/00
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed.