Bardet-Biedl syndrome 2 protein (BBS2)

Function

• component of BBsome complex

Compartment

• cell projection, cilium membrane, cytoplasm
• localizes to nonmembranous centriolar satellites in the cytoplasm

Expression

widely expressed

Pathology

• defects in BBS2 are the cause of Bardet-Biedl syndrome type 2

More general terms

• Bardet-Biedel syndrome protein

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=583
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:583
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/606151
• UniProt: http://www.uniprot.org/uniprot/Q9BXC9.html