PCDHB10

Ideogram human chromosome 5

PCDHB10

PCDHB10 is a gene that encodes a member of the protocadherin beta cluster, which is a subfamily of the cadherin superfamily. This gene is located on chromosome 5 in humans. Protocadherins are cell-adhesion proteins that play a crucial role in the development and maintenance of the nervous system.

Function

The protein encoded by PCDHB10 is involved in cell-cell adhesion and recognition processes. It is thought to be important for the establishment and maintenance of specific neuronal connections in the brain. Studies have shown that protocadherins like PCDHB10 are essential for proper brain development and function.

Clinical Significance

Mutations in the PCDHB10 gene have been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disabilities. These mutations can disrupt the normal function of the protein, leading to abnormal neuronal connectivity and communication in the brain.

Research

Research on PCDHB10 and other protocadherins is ongoing to better understand their roles in neurodevelopment and disease. By studying these genes, scientists hope to uncover new insights into the mechanisms underlying brain disorders and potentially develop targeted therapies in the future.

See also

• Protocadherin
• Cadherin superfamily