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COG5 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.
Gene Name: | component of oligomeric golgi complex 5 |
Synonyms: | COG5, CDG2I, COG complex subunit 5, GOLTC1, GTC-90, Golgi transport complex 1, GTC90 |
Target Sequences: | NM_006348 NP_006339.3 Q9UP83 |
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