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BBIP1

Official Full Name
BBSome interacting protein 1
Organism
Homo sapiens
GeneID
92482
Background
This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Synonyms
BBS18; BBIP10; bA348N5.3; NCRNA00081;

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