BBS12 Gene Summary [Human]
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | BBS12 |
| Official Name | Bardet-Biedl syndrome 12 [Source:HGNC Symbol;Acc:HGNC:26648] |
| Ensembl ID | ENSG00000181004 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 12 |
| Synonyms | AC053545.1, Bardet-Biedl syndrome 12, C4orf24, Gm1805, Gm407, Gm721, RGD1561608 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BBS12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 12
- Bardet-Biedl syndrome type 1
- retinal dystrophy
- obesity
- retinitis pigmentosa
- ciliopathy
regulated by
- THZ531
- 2-amino-5-phosphonovaleric acid
- zeaxanthin dipalmitate
- CX3CR1
role in cell
- cell death
- differentiation
- accumulation in
- maintenance
- number
- retention in
- abnormal morphology
- size
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- basal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBS12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- stem cell differentiation
- intraflagellar transport
- photoreceptor cell maintenance
- negative regulation of stem cell differentiation
- chaperone-mediated protein complex assembly
- negative regulation of fat cell differentiation
- fat cell differentiation
- eating behavior
Cellular Component
Where in the cell the gene product is active
- cilium
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding