Protein Domain : Bardet-Biedl syndrome 12 protein IPR042984

Type  Family
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 [].
Short Name  BBS12

0 Child Features

0 Gene Families

0 Genes

1 Ontology Annotations

1 Parent Features

0 Publications

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