Document Type

Patent

Patent Number

US Patent 7,045,317

Patent agency

United States Patent and Trademark Office

Publication Date

5-16-2006

Assignee

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

Application Number

10/115,262

Date Filed

2002-04-02

Total Pages

45 pages

Abstract

The present invention relates to the identification of a gene, now designated BBS4, 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 BBS4 protein disclosed herein is 519 amino acids in length and is coded for by a gene spanning 16 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/399