CALR3 Antibody – Mouse Polyclonal

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

calreticulin 3: During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility. CALR3 capacity for calcium- binding may be absent or much lower than that of CALR. Defects in CALR3 are the cause of familial hypertrophic cardiomyopathy type 19 (CMH19). CMH19 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. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Belongs to the calreticulin family.

Protein type: Cancer Testis Antigen (CTA); Chaperone

Chromosomal Location of Human Ortholog: 19p13.11

Cellular Component: endoplasmic reticulum lumen

Molecular Function: unfolded protein binding; calcium ion binding; carbohydrate binding

Biological Process: protein folding; spermatogenesis; cell differentiation

Disease: Cardiomyopathy, Familial Hypertrophic, 19