Human BTD Recombinant Protein (RPPB1445)
- SKU:
- RPPB1445
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P43251
- Research Area:
- Enzymes
Description
| Product Name: | Human BTD Recombinant Protein |
| Product Code: | RPPB1445 |
| Size: | 5µg |
| Species: | Human |
| Target: | BTD |
| Synonyms: | Biotinidase,EC 3.5.1.12, Biotinase, EC 3.5.1. |
| Source: | Sf9 Insect cells |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | BTD protein solution (0.25mg/ml) containing PhosphateBuffered Saline (pH 7.4) and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.�Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 85% as determined by SDS-PAGE. |
| Amino Acid Sequence: | AHTGEESVAD HHEAEYYVAA VYEHPSILSL NPLALISRQE ALELMNQNLDIYEQQVMTAA QKDVQIIVFP EDGIHGFNFT RTSIYPFLDF MPSPQVVRWN PCLEPHRFND TEVLQRLSCMAIRGDMFLVA NLGTKEPCHS SDPRCPKDGR YQFNTNVVFS NNGTLVDRYR KHNLYFEAAFDVPLKVDLIT FDTPFAGRFG IFTCFDILFF DPAIRVLRDY KVKHVVYPTAWMNQLPLLAA IEIQKAFAVA FGINVLAANV HHPVLGMTGS GIHTPLESFW YHDMENPKSH LIIAQVAKNPVGLIGAENAT GETDPSHSKF LKILSGDPYC EKDAQEVHCD EATKWNVNAP PTFHSEMMYDNFTLVPVWGK EGYLHVCSNGLCCYLLYERP TLSKELYALG VFDGLHTVHG TYYIQVCALV RCGGLGFDTC GQEITEATGI FEFHLWGNFS TSYIFPLFLTSGMTLEVPDQ LGWENDHYFL RKSRLSSGLV TAALYGRLYE RDLEHHHHHH |
Biotinidase also known BTD, belongs to the nitrilasesuperfamily, which contains 12 families of nitrilases, amidases, carbamylases,and N-acyltrasferases. BTD catalyzes the hydrolysis of biocytin, the product ofbiotin-dependent carboxylase degradation, to biotin and lysine. BTD has a vitalregulatory part in chromatin/DNA function. Mutationsin BTD protein lead to Biotinidase deficiency.
BTD Human Recombinant produced in Sf9 Baculovirus cells is a single, glycosylated polypeptide chain containing 510 amino acids (44-545a.a) and having a molecular mass of 57.8kDa. (Molecular size on SDS-PAGE will appear at approximately 50-70kDa).BTD is fused to an 8 amino acid His-tag at C-terminus & purified by proprietary chromatographic techniques.
| 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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