DISEASES

Disease-gene associations mined from literature

Literature on TM4SF20

TM4SF20 [ENSP00000303028]

Transmembrane 4 L6 family member 20; Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1 . Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein . ; Belongs to the L6 tetraspanin family.

Synonyms:  TM4SF20,  TM4SF20p,  hTM4SF20,  C9JES4,  Q53R12 ...

Linkouts:  STRING  Pharos  UniProt  OMIM