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BTD / Biotinidase 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.
Gene Name: | biotinidase |
Synonyms: | BTD, Biotinase, Biotinidase |
Target Sequences: | NM_000060 NP_000051.1 P43251 |
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