3hr0
From Proteopedia
Crystal structure of Homo sapiens Conserved Oligomeric Golgi subunit 4
Structural highlights
DiseaseCOG4_HUMAN Defects in COG4 are the cause of congenital disorder of glycosylation type 2J (CDG2J) [MIM:613489. It is a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.[1] [2] FunctionCOG4_HUMAN Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.[3] Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
| ||||||||||||||||||
