PCDH19
Developmental stage
Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.
Function
Calcium-dependent cell-adhesion protein.
Involvement in disease
Developmental and epileptic encephalopathy 9
DEE9
A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
KIAA1313, PCDH19, Protocadherin-19