Recombinant Human Biotinidase/BTD Protein (His Tag)(Active) (RPES3578)

SKU:
RPES3578
€499

Description

ELISA Kit Technical Manual

Recombinant Human Biotinidase/BTD Protein (His Tag)(Active)

Background:Biotinidase, also known as biotinase and BTD, is a ubiquitous mammalian cell enzyme which expressed at high levels in the liver, serum, and kidney. Its primary function is to cleave biotin from biocytin, preserving the pool of biotin for use as a cofactor for biotin dependent enzymes, namely the 4 human carboxylases. Biotinidase also recycles biotin from enzymes in the body that use it as a helper component in order to function. These enzymes, known ascarboxylases, are important in the processing of fats, carbohydrates, and proteins. Biotin is attached to these carboxylase enzymes through an amino acid (the building material of proteins) called lysine, forming a complex calledbiocytin.
Name:Recombinant Human Biotinidase/BTD Protein (His Tag)(Active)
Size:10µg
Assay Genie SKU:RPES3578
Synonyms:BTD
Species:Human
Expression host:HEK293 Cells
Sequence:Met 1-Asp543
Accession:P43251
Mol Mass:58.2 kDa
AP Mol Mass:66-76 kDa
Tag:C-His
Bio Activity:Measured by its ability to hydrolyze biocytin to lysine and biotin. The specific activity is >500pmol/min/?g.
Purity:> 95 % as determined by reducing SDS-PAGE.
Endotoxin:< 1.0 EU per µg as determined by the LAL method.
Storage:Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8? for 2-7 days. Aliquots of reconstituted samples are stable at < -20'C for 3 months.
Shipping:This product is provided as lyophilized powder which is shipped with ice packs.
Formulation:Lyophilized from sterile PBS, pH 7.4
Reconstitution:Please refer to the printed manual for detailed information.
UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: 3p25

Cellular Component: extracellular space; mitochondrial matrix; apical part of cell; extracellular region; nucleolus; perikaryon

Molecular Function:biotinidase activity; biotin carboxylase activity

Biological Process: epidermis development; central nervous system development; vitamin metabolic process; biotin metabolic process; water-soluble vitamin metabolic process

Disease: Biotinidase Deficiency

NCBI Summary: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 Code:P43251
NCBI GenInfo Identifier:226693503
NCBI Gene ID:686
NCBI Accession:P43251.2
UniProt Secondary Accession:P43251,Q96EM9, A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9 F8W1Q3,
UniProt Related Accession:P43251
Molecular Weight:543
NCBI Full Name:Biotinidase
NCBI Synonym Full Names:biotinidase
NCBI Official Symbol:BTD
NCBI Protein Information:biotinidase; biotinase
UniProt Protein Name:Biotinidase
Protein Family:Biotinidase
UniProt Gene Name:BTD
UniProt Entry Name:BTD_HUMAN
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Additional Information

Product type:
Recombinant Protein
Host species:
HEK293 Cells
Reactivity:
Human
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