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Michael L. Nickerson, Allen D. Bosley, Jayne S. Weiss, Brittany N. Kostiha, Yoshihisa Hirota, Wolfgang Brandt, Dominic Esposito, Shigeru Kinoshita, Ludger Wessjohann, Scott G. Morham, Thorkell Andresson, Howard S. Kruth, Toshio Okano and Michael Dean The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes Human Mutation 34

Article first published online: 27 NOV 2012 | DOI: 10.1002/humu.22230

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Schnyder corneal dystrophy (SCD), an autosomal dominant disease characterized by corneal cholesterol deposition and loss of visual acuity, results from germline mutations in UBIAD1 causing missense protein alterations. We report a novel UBIAD1 founder mutation, p.G177E, in four SCD families from Finland and show significantly decreased MK-4 synthesis by SCD-altered UBIAD1. UBIAD1 interacts with HMGCR and SOAT1, enzymes catalyzing cholesterol synthesis and storage, respectively, indicating vitamin K and cholesterol synthesis are linked by UBIAD1 to maintain cornea health and visual acuity.

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