PCDHGC4 Human

The protocadherin gamma gene cluster has an immunoglobulin-like organization, suggesting a novel mechanism may be involved in their regulation and expression. Each gene in the cluster has a tandem array of large, variable region exons followed by a constant region containing three exons shared by all genes in the cluster. The variable region exons encode the extracellular region, which includes six cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region .

PCDHGC4 is a potential calcium-dependent cell-adhesion protein. It is believed to play a critical role in the establishment and maintenance of specific neuronal connections in the brain. These neural cadherin-like cell adhesion proteins are essential for the proper functioning of the nervous system .

PCDHGC4 is localized to the vesicles and plasma membrane, and it is also found in the nucleoplasm and cytosol. The gene is group enriched in tissues such as the brain and retina, with significant expression in the cerebral cortex, cerebellum, basal ganglia, hypothalamus, midbrain, amygdala, choroid plexus, hippocampal formation, spinal cord, and retina .

Diseases associated with PCDHGC4 include neurodevelopmental disorder with poor growth and skeletal anomalies and non-specific syndromic intellectual disability. These associations highlight the importance of PCDHGC4 in normal brain development and function .

Human recombinant PCDHGC4 is used in research to study its role in cell adhesion and neuronal connections. Understanding the function and regulation of PCDHGC4 can provide insights into the mechanisms underlying neurodevelopmental disorders and potentially lead to the development of therapeutic interventions.