Biotinidase: its role in biotinidase deficiency and biotin metabolism✩
Received 30 March 2005; received in revised form 30 March 2005; accepted 30 March 2005.
Abstract
Renewed interest in biotinidase, the enzyme responsible for recycling the vitamin biotin, initially came from the discovery of biotinidase deficiency in 1982. Since then, the elucidation of other activities of the enzyme, alternative splicing of the biotinidase gene and differential subcellular localization of the enzyme have prompted speculation and investigations of its other possible functions. The results of these studies have implicated biotinidase in aspects of biotin metabolism, specifically the biotinylation of various proteins, such as histones. Biotinidase may have an important regulatory role(s) in chromatin/DNA function.
Departments of Pediatrics and Genetics and Developmental Biology, Connecticut Children's Medical Center and the University of Connecticut School of Medicine, Hartford, CT 06106, USA
Corresponding author. Division of Research, Connecticut Children's Medical Center, Hartford, CT 06106, USA. Tel.: +1 860 545 9944; fax: +1 860 545 9906.
✩ This paper was presented at the “International Symposium: Vitamins as Regulators of Genetic Expression: Biotin as a Model,” NAFTA Satellite Meeting to the XXV National Congress of Biochemistry, held December 3–4, 2004, in Ixtapa, Zihuatanejo, Mexico. This meeting was sponsored by Sociedad Mexicana de Bioquimica A.C.; Programa de Doctorado en Ciencias Biomedicas, Universidad Nacional Autonoma de Mexico; Laboratorios Roche-Syntex, Mexico; and Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico.
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