Bardet-Biedl susceptibility gene and uses thereof

Details Bardet-Biedl susceptibility gene and uses thereof Bardet-Biedl susceptibility gene and uses thereof

2006-03-07

2006-03-07

Campell, Bruce R. (Department: 1654)

Chemistry: molecular biology and microbiology

Enzyme , proenzyme; compositions thereof; process for...

C435S006120, C435S320100, C435S325000

Reexamination Certificate

active

07008782

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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