BTD Human

Recombinant human biotinidase is typically produced using mammalian cell lines such as Chinese Hamster Ovary (CHO) cells or HEK293 cells . The enzyme consists of 543 amino acids and has a molecular weight of approximately 58 kDa . It is often tagged with a His-tag to facilitate purification and detection .

Biotinidase’s primary function is to hydrolyze biocytin to release free biotin and lysine . This process is essential for maintaining adequate levels of biotin, which is a cofactor for several carboxylase enzymes involved in the metabolism of fats, carbohydrates, and proteins . The enzyme’s activity can be measured using substrates such as biotin 4-nitrophenyl ester (BNP), with specific activity values typically exceeding 190 pmol/min/μg .

Biotinidase deficiency is a metabolic disorder that can lead to a range of symptoms, including skin rashes, hair loss, seizures, and developmental delays. Early diagnosis and treatment with biotin supplements can prevent these symptoms and improve outcomes . Recombinant human biotinidase is used in research and diagnostic applications to study the enzyme’s function and to develop treatments for biotinidase deficiency .

Recombinant human biotinidase is typically supplied as a lyophilized powder or a filtered solution. It should be stored at -70°C to maintain stability and activity . Reconstituted protein solutions can be stored at 4-8°C for short-term use or at -20°C for longer periods .