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BTD biotinidase

Gene ID: 686, updated on 21-Mar-2023
Gene type: protein coding


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. [provided by RefSeq, Aug 2013]

Associated conditions

See all available tests in GTR for this gene

Biotinidase deficiency
MedGen: C0220754OMIM: 253260GeneReviews: Biotinidase Deficiency
See labs
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available

Genomic context

Chromosome: 3; NC_000003.12 (15601361..15722516)
Total number of exons:


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