BBS9

BBS9
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4YD8
Identifiers
Aliases	BBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDs	OMIM: 607968; MGI: 2442833; HomoloGene: 44480; GeneCards: BBS9; OMA:BBS9 - orthologs
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	22,799,576 bp
Gene ontology
Molecular function	protein binding; molecular function;
Cellular component	cytoplasm; cytosol; cell projection; BBSome; pericentriolar material; membrane; plasma membrane; cilium; centriolar satellite; ciliary transition zone; microtubule organizing center; ciliary membrane; cytoskeleton;
Biological process	response to stimulus; cell projection organization; protein localization to cilium; protein transport; fat cell differentiation; visual perception; cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
	27241
	319845
	ENSG00000122507
	ENSMUSG00000035919
	Q3SYG4
	Q811G0
	NM_001033604; NM_001033605; NM_014451; NM_198428
	NM_178415; NM_181316; NM_001360258; NM_001360259
NP_001028776; NP_001028777; NP_055266; NP_940820; NP_001334965;
	NP_001334966; NP_001334967; NP_001334968; NP_001334969; NP_001334970; NP_001334971; NP_001334972; NP_001334973; NP_001334974; NP_001334975; NP_001349608
	NP_848502; NP_851833; NP_001347187; NP_001347188
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.

The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.

Mutations in this gene are associated with the Bardet–Biedl syndrome.