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Article

Naturally occurring UBIAD1 mutations differentially affect menaquinone biosynthesis and vitamin K-dependent carboxylation.

The FEBS journal - 1 May 2022

Chen Xuejie, Furukawa Natsuko, Jin Da-Yun, Liu Yizhou, Stafford Darrel W, Williams Craig M, Suhara Yoshitomo, Tie Jian-Ke

Abstract excerpt

UbiA prenyltransferase domain-containing protein-1 (UBIAD1) is responsible for the biosynthesis of menaquinone-4 (MK-4), a cofactor for extrahepatic carboxylation of vitamin K-dependent (VKD) proteins. Genetic variations of UBIAD1 are mainly associated with Schnyder corneal dystrophy (SCD), a disease characterized by abnormal accumulation of cholesterol in the cornea. Results from in vitro studies demonstrate...

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Identifiers

PMID: 34813684
DOI: 10.1111/febs.16291
PMCID: PMC9064899

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