| Primary Identifier | IPR042984 | Type | Family |
| Short Name | BBS12 |
| description | Bardet-Biedl syndrome (BBS) is a rare genetic disorder belonging to the group of ciliopathies, which encompasses several diseases that are caused by defects in cilia structure and/or function, especially affecting the primary cilium. Mutations of the BBS12 gene accounts for approximately 5% of all BBS cases []. BBS12 is part of the BBS/CCT complex and is required or BBSome assembly []. BBSome plays a key role in mediating molecular/vesicular transport in and out of the primary cilium, and also in intraciliary trafficking as part of the intraflagellar transport machinery []. |
