Human HMBS Recombinant Protein (RPPB1812)
- SKU:
- RPPB1812
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P08397
- Research Area:
- Enzymes
Description
| Product Name: | Human HMBS Recombinant Protein |
| Product Code: | RPPB1812 |
| Size: | 20µg |
| Species: | Human |
| Target: | HMBS |
| Synonyms: | Porphobilinogen deaminase, PBG-D, Hydroxymethylbilane synthase, HMBS, Pre-uroporphyrinogen synthase, HMBS, PBGD, UPS, PORC. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The HMBS solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 10% glycerol and 0.1M NaCl. |
| 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 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMSGNGN AAATAEENSP KMRVIRVGTR KSQLARIQTD SVVATLKASY PGLQFEIIAM STTGDKILDT ALSKIGEKSL FTKELEHALE KNEVDLVVHS LKDLPTVLPP GFTIGAICKR ENPHDAVVFH PKFVGKTLET LPEKSVVGTS SLRRAAQLQR KFPHLEFRSI RGNLNTRLRK LDEQQEFSAI ILATAGLQRM GWHNRVGQIL HPEECMYAVG QGALGVEVRA KDQDILDLVG VLHDPETLLR CIAERAFLRH LEGGCSVPVA VHTAMKDGQL YLTGGVWSLD GSDSIQETMQ ATIHVPAQHE DGPEDDPQLV GITARNIPRG PQLAAQNLGI SLANLLLSKG AKNILDVARQ LNDAH |
Porphobilinogen deaminase (HMBS) belongs to the hydroxymethylbilane synthase superfamily. HMBS is a cytoplasmic enzyme found in the heme synthesis pathway. HMBS is the 3rd enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of 4 porphobilinogen molecules into the linear hydroxymethylbilane. HMBS gene mutations cause errors in pyrrole metabolism which in turn lead to the autosomal dominant disease acute intermittent porphyria.
HMBS Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 385 amino acids (1-361) and having a molecular mass of 41.9kDa.HMBS is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | HMBS: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. Defects in HMBS are the cause of acute intermittent porphyria (AIP). AIP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Belongs to the HMBS family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:EC 2.5.1.61; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Transferase; Mitochondrial Chromosomal Location of Human Ortholog: 11q23.3 Cellular Component: cytosol Molecular Function:hydroxymethylbilane synthase activity Biological Process: porphyrin metabolic process; protoporphyrinogen IX biosynthetic process; peptidyl-pyrromethane cofactor linkage; heme biosynthetic process Disease: Porphyria, Acute Intermittent |
| NCBI Summary: | This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P08397 |
| NCBI GenInfo Identifier: | 1170217 |
| NCBI Gene ID: | 3145 |
| NCBI Accession: | P08397.2 |
| UniProt Related Accession: | P08397 |
| Molecular Weight: | 39kDa |
| NCBI Full Name: | Porphobilinogen deaminase |
| NCBI Synonym Full Names: | hydroxymethylbilane synthase |
| NCBI Official Symbol: | HMBS�� |
| NCBI Official Synonym Symbols: | UPS; PBGD; PORC; PBG-D�� |
| NCBI Protein Information: | porphobilinogen deaminase |
| UniProt Protein Name: | Porphobilinogen deaminase |
| UniProt Synonym Protein Names: | Hydroxymethylbilane synthase; HMBS; Pre-uroporphyrinogen synthase |
| UniProt Gene Name: | HMBS�� |
| UniProt Entry Name: | HEM3_HUMAN |
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