JHY

Cilia effects upon perturbation of JHY

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:29211732

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion

Function

Required for ciliogenesis and proper differentiation of radial glia to functional ependymal cells. Mutations cause congenital hydrocephalus and loss of JHY results in the lack of the ciliary microtubule central pair ( 29211732).Homozygous Jhy lacZ/lacZ mice develop fewer and shorter ependymal cilia, and these cilia show loss of the central pair of microtubules. Cilia of Jhy lacZ/lacZ mice have severely reduced motility, a potential cause for the development of hydrocephalus.(29211732) Ependymal cilia lining the lateral ventricles are morphologically abnormal and reduced in number. (UniProt)