Bardet-Biedl susceptibility gene and uses thereof
AssigneeUniversity of Iowa Research Foundation
InventorsVal Sheffield, Darryl Nishimura, Edwin Stone
Life of this patent
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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.
Claims12
A method of diagnosing Bardet-Biedl Syndrome (BBS) comprising identifying a mutation in a NGVN polypeptide or nucleic acid.
Dependencies are inferred from the claim text.