Código SKU: PKSH032151_10μg-ES

Proteína calreticulina-3/CALR3 humana recombinante, 10 μg

La calreticulina-3 pertenece a la familia de las calreticulinas, cuyos miembros son chaperonas que se unen al calcio y se localizan principalmente en el retículo endoplasmático. Se puede dividir en un dominio globular N-terminal, un dominio P rico en prolina que forma una estructura similar a un brazo alargado y un dominio ácido C-terminal. Durante el proceso de espermatogénesis, la calreticulina-3 puede actuar como chaperona independiente de lectina para proteínas cliente específicas como ADAM3. Los defectos en CALR3 son la causa de la miocardiopatía hipertrófica familiar tipo 19 (CMH19), una cardiopatía hereditaria caracterizada por hipertrofia ventricular, generalmente asimétrica y que a menudo afecta el tabique interventricular. Los síntomas incluyen disnea, síncope, colapso, palpitaciones y dolor torácico.

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