Rabbit anti-Human COG8 Polyclonal Antibody | anti-COG8 antibody
COG8 Polyclonal Antibody
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Molecular Function: protein binding
Biological Process: cellular protein metabolic process; ER to Golgi vesicle-mediated transport; intra-Golgi vesicle-mediated transport; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; protein transport
Disease: Congenital Disorder Of Glycosylation, Type Iih