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Journal of Undergraduate Research

Keywords

BBSome, bardet-biedl syndrome, kidney disease, mental retardation

College

Life Sciences

Department

Chemistry and Biochemistry

Abstract

Bardet-Biedl Syndrome (BBS) occurs when an eight-protein complex called the BBSome is improperly assembled and can no longer function. The BBSome is responsible for trafficking membrane proteins to cilia, a projection from the cell surface packed with receptors that allow the cell to sense its surroundings. Loss of BBSome function causes malformation of cilia and leads to vision loss, obesity, kidney disease and mental retardation.

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