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COG8 is 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.
Gene Name: | component of oligomeric golgi complex 8 |
Synonyms: | COG8, CDG2H, Dor1, COG complex subunit 8, Dependent on RIC1 |
Target Sequences: | NM_032382 NP_115758.3 Q96MW5 |
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