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CALR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CALR gene

The CALR gene provides instructions for making the protein calreticulin, which is essential for protein folding, calcium regulation, and immune system function.

Normal Function

The CALR gene provides instructions for making a multi-functional protein called calreticulin. This protein is found in several parts of the cell, including inside a structure called the endoplasmic reticulum (ER), in the fluid-filled space inside the cell (the cytoplasm), and at the outer surface of the cell. The ER is involved in protein processing and transport, and within this structure, calreticulin plays a role in ensuring the proper folding of newly formed proteins. The ER is also a storage location for charged calcium atoms (calcium ions), and calreticulin is involved in maintaining the correct levels of calcium ions in this structure. Through calcium regulation and other mechanisms, calreticulin is thought to play a role in the control of gene activity, cell growth and division (proliferation) and movement (migration), the attachment of cells to one another (adhesion), and regulation of programmed cell death (apoptosis). The function of this protein is important for immune system function and wound healing.

Health Conditions Related to Genetic Changes

19p13.13 deletion syndrome

MedlinePlus Genetics provides information about 19p13.13 deletion syndrome.

Essential thrombocythemia

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the CALR gene in early blood-forming cells are associated with essential thrombocythemia, a disorder characterized by an increased number of platelets, the blood cells involved in normal blood clotting. The mutations associated with this condition remove or add small amounts of genetic material to a region of the CALR gene called exon 9. These genetic changes lead to production of an altered calreticulin protein with a different sequence of building blocks (amino acids) at one end. It is not clear how the alteration in calreticulin affects the protein's function or leads to the signs and symptoms of essential thrombocythemia.

Primary myelofibrosis

Somatic mutations in exon 9 of the CALR gene are also associated with primary myelofibrosis, a condition in which bone marrow is replaced by scar tissue (fibrosis). The effect of the genetic changes on calreticulin function is unknown, and researchers are working to determine how the altered protein is involved in primary myelofibrosis.

Other Names for This Gene

  • calregulin
  • calreticulin precursor
  • cC1qR
  • CRP55
  • CRT
  • endoplasmic reticulum resident protein 60
  • epididymis secretory sperm binding protein Li 99n
  • ERp60
  • FLJ26680
  • grp60
  • HACBP
  • HEL-S-99n
  • RO
  • Sicca syndrome antigen A (autoantigen Ro; calreticulin)
  • SSA

Frequently Asked Questions

No, the CALR gene mutations associated with essential thrombocythemia are typically "somatic" mutations. This means they are acquired during a person's lifetime in blood-forming cells and are not inherited from parents or passed on to children.
CALR gene mutation is typically identified through a blood test that looks for specific genetic changes in the DNA of blood cells. This testing is often performed as part of the diagnostic workup for essential thrombocythemia, especially after other common mutations (like JAK2) have been ruled out.
Symptoms can be subtle or absent, but may include fatigue, headache, dizziness, visual disturbances, burning or tingling in the hands and feet (erythromelalgia), or an increased risk of blood clots or bleeding. These are general symptoms of essential thrombocythemia, and a CALR mutation is identified through specific genetic testing.
Treatment for CALR-mutated essential thrombocythemia often focuses on reducing platelet counts and managing symptoms to prevent complications like blood clots or bleeding. This may involve medications such as hydroxyurea, anagrelide, or interferon, and sometimes low-dose aspirin. The specific approach depends on individual risk factors and symptoms.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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