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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
General
Bardet-Biedl syndrome protein (BBS)
Properties
SIZE: MW = 39 kD
entity length = 341 aa
Database Correlations
OMIM correlations
MORBIDMAP 603650
UniProt Q8N3I7
Pfam PF07289
References
- UniProt :accession Q8N3I7
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS5
Component-of
BBsome complex