DISEASES

Disease-gene associations mined from literature

Literature associating TRAM2 and juvenile myoclonic epilepsy

TRAM2 [ENSP00000182527]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM