| Gene Symbol |
BBS12
|
| Entrez Gene |
166379
|
| Alt Symbol |
C4orf24
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 12
|
| Other Description |
Bardet-Biedl syndrome 12 protein
|
| Swissprots |
Q7Z342 Q8NAB8 Q7Z482 D3DNX5 Q6ZW61
|
| Accessions |
EAX05223 EAX05224 Q6ZW61 AK092949 BAC04006 AK123553 BAC85644 BC055426 AAH55426 BC065708 BX538148 CAD98035 CD359068 XM_011531680 XP_011529982 NM_001178007 NP_001171478 NM_152618 NP_689831
|
| Function |
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.
|
| Subcellular Location |
Cell projection, cilium {ECO:0000269|PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes.
|