DISEASES

Disease-gene associations mined from literature

Literature on CMTM6

CMTM6 [ENSP00000205636]

CKLF-like MARVEL transmembrane domain-containing protein 6; Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy.

Synonyms:  CMTM6,  CMTM6p,  hCMTM6,  Q9NX76,  Q9NX76p ...

Linkouts:  STRING  Pharos  UniProt  OMIM