Component of Oligomeric Golgi Complex 1 (COG1) Antibody – Rabbit Polyclonal

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

COG1: Required for normal Golgi function. Defects in COG1 are the cause of congenital disorder of glycosylation type 2G (CDG2G); also known as CDG-II caused by COG1 deficiency. CDGs are a family of severe inherited diseases caused by a defect in glycoprotein biosynthesis. They are characterized by under-glycosylated serum glycoproteins. 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. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. Belongs to the COG1 family.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 17q25.1

Cellular Component: Golgi membrane; Golgi apparatus; Golgi transport complex

Molecular Function: protein binding

Biological Process: intra-Golgi vesicle-mediated transport; protein transport; Golgi organization and biogenesis

Disease: Congenital Disorder Of Glycosylation, Type Iig