Gene Symbol | COG8 |
Entrez Gene ID | 84342 |
Full Name | component of oligomeric golgi complex 8 |
Synonyms | CDG2H,DOR1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIh, 611182 (3) |