Gene: COG4

Alternate names for this Gene: CDG2J|COD1|SWILS

Gene Summary: The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: component of oligomeric golgi complex 4

Type of Gene: protein-coding

rs146512116 in COG4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs376663459 in COG4 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj PMID 19494034 2009 Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

PMID 21185756 2011 Identification of the first COG-CDG patient of Indian origin.

rs1555575860 in COG4 gene and SAUL-WILSON SYNDROME PMID 30290151 2018 A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.