PCDH19 è un gene codificato dal simbolo PCDH19. Comunemente indicato anche come: Protocadherin-19; KIAA1313. PCDH19 ha una massa di 126.25kDa, una lunghezza di amminoacidi di 1148, ed è implicato in Epileptic encephalopathy, early infantile, 9.
Offriamo 1 anticorpi contro PCDH19, allevati nel Coniglio, che sono adatti per WB con campioni derivati da Umano.
Informazioni su geni e proteine
Riepilogo UniProt
Potential calcium-dependent cell-adhesion protein.
Sommario di 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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Posizione cellulare
Cell membrane.
