DISEASES

Disease-gene associations mined from literature

Literature associating CALR and essential thrombocythemia

CALR [ENSP00000320866]

Endoplasmic reticulum resident protein 60; Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity).

Synonyms:  CALR,  B4E2Y9,  HEL-S-99N,  K7EJB9,  P27797 ...

Linkouts:  STRING  Pharos  UniProt  OMIM