CALR3
CALR3: A Gene Linked to Myeloproliferative Neoplasms
Description
CALR3 (Calreticulin 3) is a gene that encodes a protein called calreticulin-3. This protein is primarily expressed in the endoplasmic reticulum (ER), where it plays a crucial role in regulating calcium homeostasis and facilitating protein folding and quality control.
Associated Diseases
CALR3 mutations have been strongly linked to myeloproliferative neoplasms (MPNs), a group of blood cancers characterized by an overproduction of blood cells. Specifically, CALR3 mutations are most commonly associated with:
- Essential thrombocythemia (ET): A condition characterized by an excessive number of platelets in the blood.
- Primary myelofibrosis (PMF): A condition characterized by scarring of the bone marrow, leading to decreased blood production.
- Polycythemia vera (PV): A condition characterized by an excessive number of red blood cells in the blood.
Did you Know ?
Approximately 25-30% of ET and PMF cases, and a smaller percentage of PV cases, are associated with CALR3 mutations. This makes CALR3 mutations the second most common genetic alteration in MPNs, after JAK2 mutations.
