Function
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Biological Context
Subcellular Location: Secreted, extracellular space
Disease Association: Biotinidase deficiency (BTD deficiency) : 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. Biotinidase 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Biotinidase (BTD), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 322-397aa, with N-terminal 10xHis-GST-tagged and C-terminal Myc-tagged tag, molecular weight 41.3kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
