Document Type

Patent

Patent Number

US Patent 7,947,479

Patent agency

United States Patent and Trademark Office

Publication Date

5-24-2011

Assignee

University of Iowa Research Foundation (Iowa City, IA, US)

Application Number

11/370,242

Date Filed

2006-03-07

Total Pages

57 pages

Abstract

The present invention relates to the identification of a gene, now designated negevin (ngvn), that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. The human NGVN protein disclosed herein is 731 amino acids in length and is coded for by a gene spanning 17 exons. Homologs have been identified in mouse, rat, zebrafish. Methods of use for the gene, for example in diagnosis and therapy of BBS and in drug screening, also are described.

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URL

https://ir.uiowa.edu/patents/537