JHY
junctional cadherin complex regulator
- Ensembl:
- ENSG00000109944
- UniProt:
- Q6NUN7
- OMIM:
- 617594
- Synonyms:
- C11ORF63, FLJ23554
Cilia effects upon perturbation of JHY
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Cell migration & adhesion
Function
Required for ciliogenesis and proper differentiation of radial glia to functio l 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)
Model organism evidence
The mouse Jhy gene regulates ependymal cell differentiation and ciliogenesis.
The ependymal cilia lining the lateral ventricles are morphologically abnormal and reduced in number in Jhy(lacZ/lacZ) brains, and ultrastructural analysis revealed disorganization of the expected 9+2 microtubule pattern.