Disease-gene associations mined from literature

Literature associating CTAGE5 and spondyloepiphyseal dysplasia tarda

CTAGE5 [ENSP00000379462]

Endoplasmic reticulum export factor CTAGE5; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites; CTAGE family

Synonyms:  CTAGE5,  CTAGE5p,  hCTAGE5,  G3V3C4,  G3V5K6 ...

Linkouts:  STRING  Pharos  UniProt