PCDH19 est un gène codé par le symbole PCDH19. Communément appelé aussi: Protocadherin-19; KIAA1313. PCDH19 a une masse de 126.25kDa, une longueur d'acide aminé de 1148, et est impliqué dans Epileptic encephalopathy, early infantile, 9.
Nous proposons 1 des anticorps contre PCDH19, élevé dans Lapin, qui sont appropriés pour le WB avec des échantillons dérivés de Humain.
Informations sur les Gènes et les Protéines
Résumé UniProt
Potential calcium-dependent cell-adhesion protein.
Résumé Entrez
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.
Spécificité tissulaire
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.
Implication dans la maladie
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.
Localisation cellulaire
Cell membrane.
