Family

Bardet-Biedl syndrome 5 protein (IPR006606)

Short name: BBL5

Family relationships

Description

Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [PMID: 17574030]. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [PMID: 15137946, PMID: 21344540].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0034464 BBSome

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER