COG8 Antibody – Goat Polyclonal

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

COG8: Required for normal Golgi function. Defects in COG8 are the cause of congenital disorder of glycosylation type 2H (CDG2H). 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 COG8 family.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 16q22.1

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

Molecular Function: protein binding

Biological Process: ER to Golgi vesicle-mediated transport; intra-Golgi vesicle-mediated transport; protein transport

Disease: Congenital Disorder Of Glycosylation, Type Iih