Literature associating TRAM2 and juvenile myoclonic epilepsy
Translocating chain-associated membrane protein 2; Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT); TLC domain containing
Synonyms: TRAM2, TRAM2p, hTRAM2, A0A024RD84, G1UI27 ...