Bardet-Biedl syndrome 12 protein (BBS12, C4orf24)

Structure

• belongs to the TCP-1 chaperonin family, BBS12 subfamily

Pathology

• defects in BBS12 are the cause of Bardet-Biedl syndrome type 12

More general terms

• uncharacterized protein

Database

• OMIM: https://mirror.omim.org/entry/209900
• UniProt: http://www.uniprot.org/uniprot/Q6ZW61.html