Human HIBCH Recombinant Protein (RPPB1811)
- SKU:
- RPPB1811
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q6NVY1
- Research Area:
- Enzymes
Description
| Product Name: | Human HIBCH Recombinant Protein |
| Product Code: | RPPB1811 |
| Size: | 10µg |
| Species: | Human |
| Target: | HIBCH |
| Synonyms: | 3-hydroxyisobutyryl-coenzyme A hydrolase mitochondrial, HIBYL-CoA-H, HIB-CoA hydrolase, EC 3.1.2.4 |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The HIBCH solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 200mM NaCl, 1mM DTT 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 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMDAAEE VLLEKKGCTG VITLNRPKFL NALTLNMIRQ IYPQLKKWEQ DPETFLIIIK GAGGKAFCAG GDIRVISEAE KAKQKIAPVF FREEYMLNNA VGSCQKPYVA LIHGITMGGG VGLSVHGQFR VATEKCLFAM PETAIGLFPD VGGGYFLPRL QGKLGYFLAL TGFRLKGRDV YRAGIATHFV DSEKLAMLEE DLLALKSPSK ENIASVLENY HTESKIDRDK SFILEEHMDK INSCFSANTV EEIIENLQQD GSSFALEQLK VINKMSPTSL KITLRQLMEG SSKTLQEVLT MEYRLSQACM RGHDFHEGVR AVLIDKDQSP KWKPADLKEV TEEDLNNHFK SLGSSDLKF |
HIBCH enzyme is in charge of hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Damages in the HIBCH gene linked to 3-hyroxyisobutyryl-CoA hydrolase deficiency. Multiple transcript variants exist as a result of alternative splicing.
HIBCH Recombinant produced in E. coli is a single polypeptide chain containing 379 amino acids (33-386) and having a molecular mass of 42.1kDa.HIBCH is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | HIBCH: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD); also known as deficiency of beta- hydroxyisobutyryl CoA deacylase or methacrylic aciduria. The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life. Belongs to the enoyl-CoA hydratase/isomerase family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Other Amino Acids Metabolism - beta-alanine; Mitochondrial; EC 3.1.2.4; Carbohydrate Metabolism - propanoate; Hydrolase; Amino Acid Metabolism - valine, leucine and isoleucine degradation Chromosomal Location of Human Ortholog: 2q32.2 Cellular Component: mitochondrial matrix Molecular Function:3-hydroxyisobutyryl-CoA hydrolase activity Biological Process: branched chain family amino acid catabolic process Disease: Beta-hydroxyisobutyryl Coa Deacylase Deficiency |
| NCBI Summary: | This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
| UniProt Code: | Q6NVY1 |
| NCBI GenInfo Identifier: | 146324905 |
| NCBI Gene ID: | 26275 |
| NCBI Accession: | Q6NVY1.2 |
| UniProt Secondary Accession: | Q6NVY1,Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q92931, Q9BS94 D3DPI4, |
| UniProt Related Accession: | Q6NVY1 |
| Molecular Weight: | 38,012 Da |
| NCBI Full Name: | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial |
| NCBI Synonym Full Names: | 3-hydroxyisobutyryl-CoA hydrolase |
| NCBI Official Symbol: | HIBCH�� |
| NCBI Official Synonym Symbols: | HIBYLCOAH�� |
| NCBI Protein Information: | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial |
| UniProt Protein Name: | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial |
| UniProt Synonym Protein Names: | 3-hydroxyisobutyryl-coenzyme A hydrolase; HIB-CoA hydrolase; HIBYL-CoA-H |
| Protein Family: | 3-hydroxyisobutyryl-CoA hydrolase |
| UniProt Gene Name: | HIBCH�� |
| UniProt Entry Name: | HIBCH_HUMAN |
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