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Official Full Name
component of oligomeric golgi complex 8
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.
COG8; component of oligomeric golgi complex 8; conserved oligomeric Golgi complex subunit 8; DOR1; FLJ22315; COG complex subunit 8; Conserved oligomeric Golgi complex component 8 dependent on RIC1; dependent on RIC1; conserved oligomeric golgi complex component 8; CDG2H; zgc:110765

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