Junctional cadherin complex regulator (JHY)

Junctional cadherin complex regulator (JHY) is a protein encoded by the JHY gene, also previously known as C11orf63[1][5][6]. It is predicted to contribute to the assembly of axonemes—the core of motile cilia—in ependymal cells lining the cerebral ventricles[1][4]. Deficiency of JHY in mouse models leads to hydrocephalus, domed cranium, ataxia, weight loss, enlarged ventricles, and neurodegeneration, suggesting its essential role in cerebrospinal fluid circulation and overall brain development[7]. Human mutations are associated with juvenile hydrocephalus[1]. The protein acts upstream of or within biological processes such as motile cilium assembly, planar polarity establishment, and regulation of brain developmental pathways[1][3][6]. There is currently no established evidence for JHY as a direct therapeutic target, nor are there known drugs, clinical biomarkers, or well-characterized mechanisms of pharmacological action targeting this protein.

Other names

Jhy protein homologJHYC11orf63FLJ23554juvenile hydrocephalusuncharacterized protein C11orf63