PCDH19

Protocadherins form a subfamily of calcium-dependent cell-cell adhesion molecules in the cadherin superfamily. Protocadherin-10 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif (Wolverton and Lalande, 2001 [PubMed 11549318]). PCDH19 belongs to the delta-2 protocadherin subclass of the cadherin superfamily (Dibbens et al., 2008) [PubMed 18469813].[supplied by OMIM

Full Name

protocadherin 19

Function

Potential calcium-dependent cell-adhesion protein.

Biological Process

Brain developmentIEA:InterPro
Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:InterPro

Cellular Location

Cell membrane

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.

Topology

Extracellular: 22-678
Helical: 679-699
Cytoplasmic: 700-1148