Gene Symbol | COG5 |
Entrez Gene ID | 10466 |
Full Name | component of oligomeric golgi complex 5 |
Synonyms | CDG2I,GOLTC1,GTC90 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIi, 613612 (3) |