Aliases for COG8 Gene
External Ids for COG8 Gene
Previous GeneCards Identifiers for COG8 Gene
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]
GeneCards Summary for COG8 Gene
COG8 (Component Of Oligomeric Golgi Complex 8) is a Protein Coding gene. Diseases associated with COG8 include Congenital Disorder Of Glycosylation, Type Iih and Accommodative Esotropia. Among its related pathways are Transport to the Golgi and subsequent modification and Golgi-to-ER retrograde transport. An important paralog of this gene is ENSG00000272617.
UniProtKB/Swiss-Prot for COG8 Gene
Required for normal Golgi function.