DISEASES

Disease-gene associations mined from literature

Literature associating CANX and cerebral creatine deficiency syndrome

CANX [ENSP00000247461]

Calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse; Belongs to the calreticulin family.

Synonyms:  CANX,  D6RAQ8,  D6RAU8,  D6RB85,  D6RD16 ...

Linkouts:  STRING  Pharos  UniProt  OMIM