External Ids for BTD Gene
Previous GeneCards Identifiers for BTD Gene
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]
GeneCards Summary for BTD Gene
BTD (Biotinidase) is a Protein Coding gene. Diseases associated with BTD include Biotinidase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and biotin carboxylase activity. An important paralog of this gene is VNN1.
UniProtKB/Swiss-Prot for BTD Gene
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.