title: Deeper understanding of carboxylase.
abstract: In this issue of Blood, Tie et al report the development of a cleverly engineered, cell-based system for studying mutations in γ-glutamyl carboxylase (GGCX), the enzyme responsible for converting glutamate residues in certain proteins to γ-carboxyglutamate (Gla). They use this cell-based assay system to help explain the clinical manifestations of some otherwise puzzling GGCX gene mutations in humans that cause phenotypes ranging from severe bleeding to Keutel syndrome.
authors.affiliation: UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN.
authors.forename: James H
authors.identifier: http://orcid.org/0000-0002-1570-1569
authors.initials: JH
authors.lastname: Morrissey
mesh_terms: D015055:1-Carboxyglutamic Acid; D018698:Glutamic Acid; D006470:Hemorrhage; D006801:Humans; D009154:Mutation; D010641:Phenotype; D014812:Vitamin K
chemical_list: D014812:Vitamin K; D018698:Glutamic Acid; D015055:1-Carboxyglutamic Acid