PCDH19 ist ein Gen, das durch das Symbol PCDH19 kodiert wird. Im Allgemeinen auch bezeichnet als: Protocadherin-19; KIAA1313. PCDH19 hat eine Masse von 126.25kDa, eine Aminosäurelänge von 1148, und ist an Epileptic encephalopathy, early infantile, 9 beteiligt.
Wir bieten 1 antikörper gegen PCDH19, aufgewachsen in Kaninchen, welche geeignet sind für WB mit Proben abgeleitet von Human.
Gen- und Proteininformationen
UniProt Zusammenfassung
Potential calcium-dependent cell-adhesion protein.
Entrez Zusammenfassung
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene.
Gewebespezifität
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.
Rolle bei Krankheiten
Epileptic encephalopathy, early infantile, 9: 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.
