BBS12

BBS12
Identifiers
Aliases	BBS12, C4orf24, Bardet-Biedl syndrome 12
External IDs	OMIM: 610683; MGI: 2686651; HomoloGene: 17634; GeneCards: BBS12; OMA:BBS12 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	122,744,942 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	37,375,602 bp
RNA expression pattern
	Top expressed in
	gonad; ; sperm; ; bronchial epithelial cell; ; testicle; ; germinal epithelium; ; secondary oocyte; ; islet of Langerhans; ; cartilage tissue; ; jejunal mucosa; ; caput epididymis;
	Top expressed in
	neural layer of retina; ; hand; ; medullary collecting duct; ; ventricular zone; ; tail of embryo; ; renal corpuscle; ; fossa; ; embryo; ; condyle; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; ATP binding; protein folding chaperone activity; unfolded protein binding;
Cellular component	cell projection; cilium; chaperonin-containing T-complex;
Biological process	photoreceptor cell maintenance; negative regulation of fat cell differentiation; chaperone-mediated protein complex assembly; eating behavior; intraciliary transport; 'de novo' protein folding; chaperone-mediated protein folding;
	Sources:Amigo / QuickGO
Orthologs
	166379
	241950
	ENSG00000181004
	ENSMUSG00000051444
	Q6ZW61
	Q5SUD9
	NM_001178007; NM_152618
	NM_001008502; NM_001255992
	NP_001171478; NP_689831
	NP_001008502; NP_001242921
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.

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