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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.
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Protein Aliases: COG complex subunit 8; Component of oligomeric Golgi complex 8; conserved oligomeric golgi complex component 8; conserved oligomeric Golgi complex protein 8; Conserved oligomeric Golgi complex subunit 8; dependent on RIC1
Gene Aliases: BB235941; C87832; CDG2H; COG8; DOR1; MNCb-5704
UniProt ID: (Human) Q96MW5, (Mouse) Q9JJA2
Entrez Gene ID: (Human) 84342, (Mouse) 97484, (Rat) 291990
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