COG7 Antibody – Rabbit Polyclonal

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

COG7: Required for normal Golgi function. Defects in COG7 are the cause of congenital disorder of glycosylation type 2E (CDG2E). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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. Belongs to the COG7 family.

Chromosomal Location of Human Ortholog: 16p12.2

Cellular Component: Golgi apparatus; Golgi membrane; Golgi transport complex; intracellular membrane-bound organelle; nucleolus; trans-Golgi network membrane

Molecular Function: protein binding

Biological Process: ER to Golgi vesicle-mediated transport; Golgi organization and biogenesis; intracellular protein transport; protein amino acid glycosylation; protein localization in Golgi apparatus; protein localization in organelle; protein stabilization; retrograde vesicle-mediated transport, Golgi to ER

Disease: Congenital Disorder Of Glycosylation, Type Iie