PCDHA6 is a calcium-dependent cell-adhesion protein belonging to the protocadherin alpha (PCDHA) gene cluster, a family of synaptic cadherins involved in neuronal connectivity 1. As a member of the cadherin-related neuronal receptor (CNR) family, PCDHA6 contains extracellular cadherin repeats and functions in establishing and maintaining specific neuronal connections 2. The protein localizes at synaptic junctions and cooperates with Fyn tyrosine kinase to mediate neuronal signaling 1. PCDHA6 expression is regulated during brain development and plays roles in neurogenesis and brain size plasticity 3. Mechanistically, PCDHA6 is downstream of DISC1 signaling in psychiatric disease models, with decreased PCDHA6 expression associated with impaired neurite outgrowth in neurons 4. Clinically, PCDHA6 variants have been implicated in short root anomaly (SRA), a dental developmental condition characterized by abnormally short tooth roots; a missense variant (c.2279C>T, p.Ser760Phe) was identified in patients with extreme SRA phenotypes, suggesting the PCDHA gene cluster contributes to tooth root development 5. Additionally, PCDHA6 expression is regulated by microRNA SNP rs1463335 in monocytes, connecting genetic variation in PCDHA6 regulation to potential disease susceptibility 6.
No tissue expression data available for this gene.