PCDH19 Antibody – Mouse Monoclonal

Function: Potential calcium-dependent cell-adhesion protein.

Subcellular location: Cell membrane; Single-pass type I membrane protein

By similarity.

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. Ref.1 Ref.5

Developmental stage: Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence. Ref.1

Involvement in disease: Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14

Sequence similarities: Contains 6 cadherin domains.

Sequence caution: The sequence CAH18133.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAI41393.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAI41394.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.