L1CAM

Cilia effects upon perturbation of L1CAM

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked hydrocephalus with stenosis of the aqueduct of Sylvius; X-linked complicated corpus callosum dysgenesis

Ciliopathy associations

• Acrocallosal Syndrome

Subcellular localization

cilia associated gene, nucleoplasm, plasma membrane

Functional category

• Metabolism; Cell migration & adhesion; Motile cilium & axoneme; Cilia???cytoskeleton/adhesion links

Function

The lateral wall was also examined under an electron microscope, revealing a lack of cilia of ependymal cells. Transmission electron microscope scanning found the vacuolated change in some cilia of cross-sections and the lack of a 9 + 2 structure. Our findings suggested that the mutation of L1CAM was possibly associated with the abnormal ciliary structure, which may lead to hydrocephalus(PMID: 32128973).