TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large number of proteins involved. As part of a strategy to identify human homologs of yeast proteins that are known to be involved in Golgi homeostasis, we identified uncharacterized transmembrane protein 199 (TMEM199, previously called C17orf32) as a human homolog of yeast V-ATPase assembly factor Vph2p (also known as Vma12p).

Source: The American Journal of Human Genetics - January 28, 2016 Category: Genetics & Stem Cells Authors: Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A.W. van den Boogert, Francesco Porta, Pier Luigi Calvo, M Tags: Report Source Type: research