PCDHGC3

Ideogram human chromosome 5

PCDHGC3

PCDHGC3 is a gene that encodes a member of the protocadherin gamma subfamily of proteins. 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.

Structure

The PCDHGC3 gene consists of multiple exons that encode a protein with extracellular cadherin domains. These domains are involved in cell-cell adhesion and recognition processes. The protein product of PCDHGC3 is thought to be localized to the cell membrane.

Function

Protocadherin gamma proteins, including PCDHGC3, are known to be involved in cell-cell recognition and adhesion in the nervous system. They are thought to play a role in neuronal development, synaptic plasticity, and neural circuit formation.

Clinical Significance

Mutations in the PCDHGC3 gene have been associated with certain neurological disorders, although the exact mechanisms are not fully understood. Further research is needed to elucidate the specific role of PCDHGC3 in human health and disease.