Biotinidase (BTD) Human Recombinant Protein

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]

BTD: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. Defects in BTD are the cause of biotinidase deficiency (BTD deficiency); also called late-onset multiple carboxylase deficiency. BTD deficiency is a juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. BTD deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. Belongs to the CN hydrolase family. BTD/VNN subfamily.

Protein type: Cofactor and Vitamin Metabolism - biotin; EC 3.5.1.12; Hydrolase; Ligase; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3p25.1

Cellular Component: extracellular region; extracellular space; mitochondrial matrix

Molecular Function: biotinidase activity; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds

Biological Process: biotin metabolic process; central nervous system development

Disease: Biotinidase Deficiency