Entrez gene ID | | 84342 |
Official gene symbol | | COG8 |
Full name | | component of oligomeric golgi complex 8 |
Aliases | | ,CDG2H,DOR1,FLJ22315, |
Gene summary | | 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] |
Location | | Chromosome: 16 Locus: 16q22.1 |
Gene position | | 69373526 - 69362524 Map Viewer |
Gene orientation | | minus |
Gene size | | 11003 bp |
Gene sequence |
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OMIM ID | | 606979 |
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