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 Golgi-to-ER retrograde transport and Retrograde transport at the Trans-Golgi-Network. An important paralog of this gene is ENSG00000260371.
UniProtKB/Swiss-Prot for COG8 Gene
Required for normal Golgi function.