形式 |
The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.
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復(fù)溶 |
A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Zeevaert R, et al. Eur J Med Genet, 2009 Sep-Oct. PMID 19577670.Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. Laufman O, et al. EMBO J, 2009 Jul 22. PMID 19536132.A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Morava E, et al. Eur J Hum Genet, 2007 Jun. PMID 17356545.COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins. Steet R, et al. Mol Biol Cell, 2006 May. PMID 16510524.COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation. Shestakova A, et al. Traffic, 2006 Feb. PMID 16420527.
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