基因名:
Calr3
产品别名:
1700031L01Rik; 6330586I20Rik; Crt2; cspn; Calr3; calreticulin 3; calreticulin 3; calreticulin-3; calreticulin-2; calspeculin; calsperin;
背景信息:
Calreticulin-3 belongs to the calreticulin family, members of which are calcium binding chaperones localized mainly in the endoplasmic reticulum. It can be divided into a N-terminal globular domain, a proline-rich P-domain forming an elongated arm-like structure and a C-terminal acidic domain. During spermatogenesis process, Calreticulin-3 may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Defects in CALR3 are the cause of familial hypertrophic cardiomyopathy type 19 (CMH19), it is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain.