The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described.
Pathway
Biotin metabolism; Biotin transport and metabolism; Defective BTD causes biotidinase deficiency; Defective CUBN causes hereditary megaloblastic anemia 1
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