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

doi:10.1016/j.ajhg.2015.12.011

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Article

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

American journal of human genetics - 4 Feb 2016

Jansen Jos C, Timal Sharita, van Scherpenzeel Monique, Michelakakis Helen, Vicogne Dorothée, Ashikov Angel, Moraitou Marina, Hoischen Alexander, Huijben Karin, Steenbergen Gerry, van den Boogert Marjolein A W, Porta Francesco, Calvo Pier Luigi, Mavrikou Mersyni, Cenacchi Giovanna, van den Bogaart Geert, Salomon Jody, Holleboom Adriaan G, Rodenburg Richard J, Drenth Joost P H, Huynen Martijn A, Wevers Ron A, Morava Eva, Foulquier François, Veltman Joris A, Lefeber Dirk J

Abstract excerpt

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...

Topics

Adult
Alkaline Phosphatase
Amino Acid Sequence
Ceruloplasmin
Cholesterol
Endoplasmic Reticulum
Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fibroblasts

Genotype

Glycosylation

Golgi Apparatus

Homeostasis

Humans

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Phenotype

Source

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Identifiers

PMID: 26833330
DOI: 10.1016/j.ajhg.2015.12.011
PMCID: PMC4746368

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