Article
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
The Journal of biological chemistry - 28 Oct 2011
Seifert Wenke, Kühnisch Jirko, Maritzen Tanja, Horn Denise, Haucke Volker, Hennies Hans Christian
Abstract excerpt
Loss-of-function mutations in the gene COH1, also known as VPS13B, lead to autosomal recessive Cohen syndrome. However, the cellular distribution and function of the encoded protein COH1 (3997 amino acids), which lacks functional homologies to other mammalian proteins, have remained enigmatic. We...
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