CALR : calreticulin

Description

The CALR (calreticulin) is a protein-coding gene located on chromosome 19.

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.

Calreticulin plays a key role in protein folding, assembly, and quality control within the endoplasmic reticulum (ER) through the calreticulin/calnexin cycle. It interacts with nearly all newly synthesized glycoproteins in the ER, ensuring their proper structure. Calreticulin also interacts with the DNA-binding domain of NR3C1, mediating its export from the nucleus. It is involved in regulating maternal gene expression and may contribute to oocyte maturation by controlling calcium levels. Present in cortical granules of oocytes, it is released during fertilization to prevent polyspermy.

CALR is also known as CALR1, CRT, HEL-S-99n, RO, SSA, cC1qR.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing