BTD active protein

BTD Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121926

• Purity: >95% as determined by SDS-PAGE
• Synonyms: BTD; BTD Protein; Human; Recombinant (His Tag); Human Biotinidase/Biotinase/BTD Protein (His Tag); biotinidase; BTD active protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Asp543

• Species: Human
• Activity: Measured by its ability to hydrolyze biocytin to lysine and biotin. The specific activity is >500pmol/min/ug.
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Ala 42
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human BTD (P43251)(Met1-Asp543) with a C-terminal polyhistidine tag was expressed.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for BTD active protein

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 offats,carbohydrates, andproteins. Biotin is attached to these carboxylase enzymes through anamino acid(the building material of proteins) calledlysine, forming a complex calledbiocytin.

References

Cole H., et al.,(1994), Human serum biotinidase. cDNA cloning, sequence, and characterization. J. Biol. Chem. 269:6566-6570.Knight H.C., et al., (1998), Structure of the human biotinidase gene.Mamm. Genome 9:327-330.Ota T., et al.,(2004), Complete sequencing and characterization of 21,243 full-length human cDNAs.Nat. Genet. 36:40-45.

NCBI and Uniprot Product Information

• NCBI GI #: 4557373
• NCBI GeneID: 686
• NCBI Accession #: NP_000051.1
• NCBI GenBank Nucleotide #: NM_000060.4
• UniProt Accession #: P43251; Q96EM9; A6NHF2; B2R865; B4DFX1; B4DLJ9; B7Z7C9; F8W1Q3
• Molecular Weight: 58,913 Da
• NCBI Official Full Name: biotinidase isoform 3
• NCBI Official Synonym Full Names: biotinidase
• NCBI Official Symbol: BTD
• NCBI Protein Information: biotinidase
• UniProt Protein Name: Biotinidase
• Protein Family: Biotinidase
• UniProt Gene Name: BTD
• UniProt Synonym Gene Names: Biotinase

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; EC 3.5.1.12; Hydrolase; Ligase; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3p25.1

Cellular Component: extracellular region; extracellular space; mitochondrial matrix

Molecular Function: biotinidase activity; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds

Biological Process: biotin metabolic process; central nervous system development

Disease: Biotinidase Deficiency