PCDH8

Description

The PCDH8 (protocadherin 8) is a protein-coding gene located on chromosome 13.

Protocadherin-8 is a protein encoded by the PCDH8 gene in humans. This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notably, the large first exon encodes the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails.

Protocadherin-8 (PCDH8), also known as Arcadlin, is a calcium-dependent cell-adhesion protein. It may play a role in the activity-induced synaptic reorganization underlying long-term memory. PCDH8 could be involved in the internalization of CDH2 through the TAOK2/p38 MAPK pathway. In hippocampal neurons, PCDH8 may play a role in the down-regulation of dendritic spines, possibly through its action on CDH2 endocytosis.

PCDH8 is also known as ARCADLIN, PAPC.

Associated Diseases

WES Whole Exome Sequencing