BBIP1 - BBSome interacting protein 1
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]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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