Biotinidase

Definition:

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

References:

[1]. K L Swango, et al. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet. 1998 May;102(5):571-5. [Content Brief]

[2]. R J Pomponio, et al. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. Hum Genet. 1997 Apr;99(4):506-12. [Content Brief]

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