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Rabbit Anti-BTD/FITC Conjugated antibody
background:
Biotin, also known as vitamin B7, is an essential water-soluble vitamin that is a cofactor in glucogenesis and in the metabolism of fatty acids and leucine. Biotinidase is a 523 amino acid enzyme that catalyzes the hydrolysis of biocytin to biotin and lysine. Secreted into extracellular space, biotinidase is expressed in liver, heart, placenta, brain, skeletal muscle, pancreas and kidney. Biotinidase contains one carbon-nitrogen hydrolase domain, which is involved in the reduction of organic nitrogen compounds and ammonia production. Defects in the gene encoding biotinidase are the cause of biotinidase deficiency, which is characterized by skin rash, ataxia, seizures, hearing loss, hypotonia and optic atrophy. These symptoms are due to the individual’s inability to reutilize biotin and can, therefore, typically be treated with the addition of free biotin.
Function:
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Subcellular Location:
Secreted.
DISEASE:
Defects in BTD are the cause of biotinidase deficiency (BTD deficiency) [MIM:253260]; 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.
Similarity:
Belongs to the CN hydrolase family. BTD/VNN subfamily.
Contains 1 CN hydrolase domain.
Database links:
Entrez Gene: 686 Human
Omim: 609019 Human
SwissProt: P43251 Human
Unigene: 517830 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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