PCDHB13

PCDHB13 is a gene that encodes a member of the protocadherin beta family. These proteins are integral membrane proteins that likely play a crucial role in cell-cell recognition and adhesion, particularly in the nervous system. The protocadherin beta family is part of the larger cadherin superfamily.

Protocadherins are characterized by an extracellular region containing multiple cadherin domains, a single-pass transmembrane region, and a cytoplasmic domain that differs among protocadherin subclasses. The beta subfamily of protocadherins are arranged in a tandem array on human chromosome 5.

Specifically, PCDHB13, like other beta protocadherins, is thought to contribute to neuronal development, including neuronal migration, axon guidance, and synapse formation. Research suggests that these proteins mediate homophilic binding, meaning they bind to the same protocadherin isoform on neighboring cells. This interaction is believed to be essential for establishing and maintaining neuronal circuits.

Variations in the PCDHB13 gene have been investigated for their potential association with neurodevelopmental disorders. While its precise function and involvement in specific diseases are still under investigation, PCDHB13 remains a subject of active research in the field of neuroscience and genetics. The exact mechanisms by which PCDHB13 contributes to neuronal development and the consequences of its dysfunction are areas of ongoing study.