protein
Protocadherin-19
Gene
PCDH19
Organism
Homo sapiens(9606)
Length
1148 aa
Mass
126,253 Da
Protocadherin-19 (PCDH19) is a calcium-dependent cell-adhesion protein encoded by the PCDH19 gene in humans (UniProt: Q8TAB3). As a member of the protocadherin family, it mediates cell-to-cell interactions through calcium-dependent adhesion mechanisms.
PCDH19 is associated with developmental and epileptic encephalopathy 9 (DEE9), a condition characterized by early-onset seizures, cognitive impairment, and developmental delay. This disorder exhibits a striking sex-limited phenotype, predominantly affecting females. Clinical features of DEE9 include autistic signs and psychosis alongside neurological involvement (UniProt: Q8TAB3).
PCDH19 is classified as a syndromic autism-associated gene in the SFARI database (SFARI Cat 2), reflecting evidence linking PCDH19 mutations to autism spectrum disorder, particularly in the context of DEE9 and related developmental epileptic encephalopathies. Its role in neuronal cell adhesion suggests involvement in synaptic development and neural circuit formation relevant to both seizure susceptibility and autism pathogenesis.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Calcium-dependent cell-adhesion protein
Disease associations
Developmental and epileptic encephalopathy 9DEE9
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.
Sources
Last updated 5/6/2026, 5:23:58 AM