Family

Bardet-Biedl syndrome 2 protein (IPR016616)

Short name: Bardet-Biedl_syndrome_2_prot

Family relationships

None.

Description

Bardet-Biedl syndrome is a member of genetic ciliopathies, but the link between cilia/centrosome deficits and metabolic abnormalities is not completely clear [PMID: 18506366]. Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterised by many features, including retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons [PMID: 18317593]. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.

Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype [PMID: 18334641]. Of the 12 known BBS genes, BBS1 is the most commonly mutated [PMID: 18032602].

This entry represents BBS2, which is required for leptin receptor signalling in the hypothalamus [PMID: 19150989]. BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [PMID: 18334641].

GO terms

Biological Process

GO:1905515 non-motile cilium assembly

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.
PIRSF