Human Biotinidase (BTD) ELISA Kit | BTD elisa kit
Human Biotinidase (BTD) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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; Secreted, signal peptide; Hydrolase; Secreted; Ligase; EC 3.5.1.12
Chromosomal Location of Human Ortholog: 3p25
Cellular Component: extracellular space; apical part of cell; mitochondrial matrix; extracellular region; nucleolus; perikaryon
Molecular Function: biotinidase activity; biotin carboxylase activity
Biological Process: epidermis development; central nervous system development; vitamin metabolic process; water-soluble vitamin metabolic process; biotin metabolic process
Disease: Biotinidase Deficiency
Research Articles on BTD
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Product Notes
The Human BTD btd (Catalog #AAA7239698) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7239698 ELISA Kit recognizes Human BTD. It is sometimes possible for the material contained within the vial of "Biotinidase (BTD), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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