COG4 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

COG4: Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1. Defects in COG4 are the cause of congenital disorder of glycosylation type 2J (CDG2J). 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. Belongs to the COG4 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Vesicle

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: Golgi membrane; Golgi transport complex; trans-Golgi network membrane

Molecular Function: protein binding

Biological Process: ER to Golgi vesicle-mediated transport; Golgi organization and biogenesis; Golgi vesicle prefusion complex stabilization; retrograde transport, vesicle recycling within Golgi; retrograde vesicle-mediated transport, Golgi to ER

Disease: Congenital Disorder Of Glycosylation, Type Iij