Disease-gene associations mined from literature

Literature associating COPZ1 and Noonan syndrome 8

COPZ1 [ENSP00000449270]

Coatomer protein complex, subunit zeta 1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).

Synonyms:  COPZ1,  COPZ1p,  hCOPZ1,  A0A024RB72,  F8VUC5 ...

Linkouts:  STRING  Pharos  UniProt