Bardet-Biedl syndrome 5 protein (BBS5)

Function

• BBS5 may interact genetically with BBS1

Compartment

localizes to basal bodies

Alternative splicing

named isoforms=2

Pathology

• defects in BBS5 are a cause of Bardet-Biedl syndrome type 5

More general terms

• Bardet-Biedl syndrome protein (BBS)

Database

• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/603650
• UniProt: http://www.uniprot.org/uniprot/Q8N3I7.html