Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

• DOI: 10.1074/jbc.m111.267971
• Publication Date: 2011-08-25T00:20:04Z
• Authors: Wenke Seifert; Jirko Kühnisch; Tanja Maritzen; Denise Horn; Volker Haucke; Hans Christian He...
• Keywords: Golgi membrane

Loss-of-function mutations in the gene COH1, also known as VPS13B, lead to autosomal recessive Cohen syndrome. However, cellular distribution and function of encoded protein COH1 (3997 amino acids), which lacks functional homologies other mammalian proteins, have remained enigmatic. We show here that is a peripheral Golgi membrane strongly co-localizes with cis-Golgi matrix GM130. Consistent its subcellular localization, depletion using RNAi causes fragmentation ribbon into ministacks. Disruption organization observed fibroblasts from syndrome patients suggests dysfunction contributes pathology. In conclusion, our findings establish Golgi-associated required for integrity.