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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

COG2  -  component of oligomeric golgi complex 2

Homo sapiens

Synonyms: COG complex subunit 2, Component of oligomeric Golgi complex 2, Conserved oligomeric Golgi complex subunit 2, LDLC, Low density lipoprotein receptor defect C-complementing protein
 
 

  

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Disease relevance of COG2

  • Here we report a patient showing severe acquired microcephaly, psychomotor retardation, seizures, liver dysfunction, hypocupremia, and hypoceruloplasminemia. Analysis of his serum glycoproteins revealed defects in both sialylation and galactosylation of glycan termini. [1]
 

High impact information on COG2

  • We have cloned and sequenced a human cDNA (LDLC) which corrects the mutant phenotypes of ldlC, but not ldlB, cells [2].
  • LDLC encodes a brefeldin A-sensitive, peripheral Golgi protein required for normal Golgi function [2].
  • The eight COG subunits (Cog1-8) are found to form two heterotrimeric subassemblies (Cog2/3/4 and Cog5/6/7) linked by a heterodimer composed of the remaining subunits (Cog1/8) [3].
  • COG2 KO HEK293T cells showed defects in Golgi morphology, retrograde trafficking and sorting, sialylation and fucosylation [4]

References

  1. Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. Kodera, H., Ando, N., Yuasa, I., Wada, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Saitoh, S., Matsumoto, N., Saitsu, H. Clin. Genet. (2015) [Pubmed]
  2. LDLC encodes a brefeldin A-sensitive, peripheral Golgi protein required for normal Golgi function. Podos, S.D., Reddy, P., Ashkenas, J., Krieger, M. J. Cell Biol. (1994) [Pubmed]
  3. Subunit architecture of the conserved oligomeric Golgi complex. Ungar, D., Oka, T., Vasile, E., Krieger, M., Hughson, F.M. J. Biol. Chem. (2005) [Pubmed]
  4. COG Complex Complexities: Detailed Characterization of a Complete Set of HEK293T Cells Lacking Individual COG Subunits. Bailey Blackburn, J., Pokrovskaya, I., Fisher, P., Ungar, D., Lupashin, V.V. Front. Cell. Dev. Biol. (2016) [Pubmed]
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