BBS4

Also known as Bardet-Biedl syndrome 4

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.

Gene data

BBS4

Name: Bardet-Biedl syndrome 4
Type: protein-coding
Position: 72,686,186–72,742,006 (+)
Ensembl: ENSG00000140463
RefSeq RNA: NM_001252678.2, NM_001320665.2, NM_033028.5, NR_045565.2, NR_045566.2
RefSeq protein: NP_001239607.1, NP_001307594.1, NP_149017.2, XP_016877939.1, XP_016877943.1

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].

Pathways

Organelle biogenesis and maintenance Cilium Assembly Cargo trafficking to the periciliary membrane BBSome-mediated cargo-targeting to cilium Assembly of the 9+0 primary cilium Prader-Willi and Angelman Syndrome Ciliary landscape Genes related to primary cilium development (based on CRISPR)Joubert Syndrome Ciliopathies

via MyGene.info

Wikidata facts

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HomoloGene ID: 13197
exact match: identifiers.org/ncbigene/585
genomic end: 72738475
genomic start: 72978527
cytogenetic location: 15q24.1

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Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.

This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and intellectual disability.