COG8, Official Symbol COG8provided by HGNC Official Full Name component of oligomeric golgi complex 8provided by HGNC Primary source HGNC:HGNC:18623 See related Ensembl:ENSG00000213380 MIM:606979; AllianceGenome:HGNC:18623 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOR1; CDG2H 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] Expression Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues See more Orthologs mouse all