NP_115758.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
conserved oligomeric Golgi complex subunit 8
NCBI Official Synonym Full Names
component of oligomeric golgi complex 8
NCBI Official Synonym Symbols
NCBI Protein Information
conserved oligomeric Golgi complex subunit 8
UniProt Protein Name
Conserved oligomeric Golgi complex subunit 8
UniProt Synonym Protein Names
Component of oligomeric Golgi complex 8
UniProt Synonym Gene Names
UniProt Entry Name
COG8_HUMAN
NCBI Summary for COG8
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 Comments for COG8
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
Research Articles on COG8
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Products associated with anti-COG8 antibody
Pathways associated with anti-COG8 antibody
Diseases associated with anti-COG8 antibody
Organs/Tissues associated with anti-COG8 antibody
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