Search
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
General
Bardet-Biedel syndrome protein
Properties
SIZE: entity length = 721 aa
MW = 80 kD
COMPARTMENT: cytoplasm
Database Correlations
OMIM correlations
MORBIDMAP 606151
UniProt Q9BXC9
Entrez Gene 583
Kegg hsa:583
References
- UniProt :accession Q9BXC9
- Mutations of the BBS2 gene;
Note: Retina International's scientific newsletter
http://www.retina-international.com/sci-news/bbs2mut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BBS2
Component-of
BBsome complex