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Immunogen sequence: AFANYKTFIR GAECTERIHR LFGDVEASLG RLLDRLPSFQ QSCRNFVKEA EEISSNRRMN SLTLNRHTEI LEILEIPQLM D
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 98%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: COG complex subunit 8; Component of oligomeric Golgi complex 8; conserved oligomeric golgi complex component 8; Conserved oligomeric Golgi complex subunit 8; dependent on RIC1
Gene Aliases: CDG2H; COG8; DOR1
UniProt ID: (Human) Q96MW5
Entrez Gene ID: (Human) 84342
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