C9orf72

Cilia effects upon perturbation of C9orf72

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Phenotypes

Mouse phenotype:

abnormal spleen morphology; acute inflammation; decreased total body fat amount; inflammation; increased circulating alkaline phosphatase level; enlarged spleen; chronic inflammation; small testis; myeloid hyperplasia; lymphoid hyperplasia; hyperplasia; abnormal vertebral arch morphology; enlarged lymph nodes; epithelial hyperplasia; increased lean body mass; increased spleen weight

Subcellular localization

cytosol, midbody ring, pericentriolar region, vesicles

Functional category

• Trafficking (BBSome, small GTPases, vesicular transport, ATPases); Ciliary assembly/disassembly

Function

Forms a stable GTPase Activating Protein (GAP) complex with SMCR8. This complex is a major negative regulator of primary ciliogenesis by suppressing the cilium via its GAP activity on the GTPase RAB8A(39687012).