Literature associating CANX and creatine transporter deficiency
Major histocompatibility complex class I antigen-binding protein p88; 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, B4DGP8, B4E2T8, D6RAQ8, D6RAU8 ...