Bardet-Biedl syndrome 7 protein; BBS2-like protein 1 (BBS7, BBS2L1)

Function

• component of the BBsome complex

Compartment

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

Alternative splicing

named isoforms=2

Expression

• isoform 2 is ubiquitously expressed
• isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart & pancreas

Pathology

• ciliary dysfunction
• defects in BBS7 are a cause of Bardet-Biedl syndrome type 7

More general terms

• Bardet-Biedl syndrome protein (BBS)

Additional terms

• Bardet-Biedl syndrome

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55212
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55212
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/607590
• UniProt: http://www.uniprot.org/uniprot/Q8IWZ6.html