Inventors:
Eugene D. Carstea - Woburn MA
Danilo A. Tagle - Gaithersburg MD
Jill A. Morris - Chalfont PA
Peter G. Pentchev - Kensington MD
William J. Pavan - Derwood MD
Melissa A. Ashlock - Mont Vernon NH
Stacie K. Loftus - Burtonsville MD
Jessie Gu - Cambridge MA
Assignee:
The United States of America as represented by the Secretary of the Department of Health and Human Services - Washington DC
International Classification:
C07K 100
US Classification:
435 691, 435 6, 435 72, 435 2431, 435 721, 4352523, 4353201, 435325, 530350, 536 235, 436501, 514 2
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.