Human OTC Recombinant Protein (RPPB2061)
- SKU:
- RPPB2061
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P00480
- Research Area:
- Enzymes
Description
| Product Name: | Human OTC Recombinant Protein |
| Product Code: | RPPB2061 |
| Size: | 10µg |
| Species: | Human |
| Target: | OTC |
| Synonyms: | Ornithine carbamoyltransferase mitochondrial, Ornithine transcarbamylase, OTCase, OCTD, EC 2.1.3.3. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The OTC solution (0.5mg/ml) contains 20mM MES buffer (pH 6.0), 100mM Nacl, 2mM 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 MGSHMNKVQL KGRDLLTLKN FTGEEIKYML WLSADLKFRI KQKGEYLPLL QGKSLGMIFE KRSTRTRLST ETGFALLGGH PCFLTTQDIH LGVNESLTDT ARVLSSMADA VLARVYKQSD LDTLAKEASI PIINGLSDLY HPIQILADYL TLQEHYSSLK GLTLSWIGDG NNILHSIMMS AAKFGMHLQA ATPKGYEPDA SVTKLAEQYA KENGTKLLLT NDPLEAAHGG NVLITDTWIS MGQEEEKKKR LQAFQGYQVT MKTAKVAASD WTFLHCLPRK PEEVDDEVFY SPRSLVFPEA ENRKWTIMAV MVSLLTDYSP QLQKPKF |
OTC is a member of the ATCase/OTCase family. OTC has a key part in the urea cycle, catalyzing the second step in this pathway: the transformation of L-orthinine and carbamoyl phosphate to L-citrulline. In humans, the urea cycle is a vital pathway to detoxification of ammonia. Alterations in the gene encoding OTC are linked to the X-linked disorder OTCD (ornithine carbamoyltransferase deficiency). OTCD disorder of the urea cycle is characterized by hyperammonemia.
OTC Recombinant produced in E. coli is a single polypeptide chain containing 347 amino acids (33-354) and having a molecular mass of 38.9kDa.OTC is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | OTC: Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD). OTCD is an X- linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. Belongs to the ATCase/OTCase family. |
| UniProt Protein Details: | Protein type:EC 2.1.3.3; Transferase; Amino Acid Metabolism - arginine and proline; Mitochondrial Chromosomal Location of Human Ortholog: Xp21.1 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:ornithine carbamoyltransferase activity Biological Process: arginine biosynthetic process via ornithine; citrulline biosynthetic process; ornithine catabolic process; urea cycle Disease: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
| NCBI Summary: | This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P00480 |
| NCBI GenInfo Identifier: | 84028235 |
| NCBI Gene ID: | 5009 |
| NCBI Accession: | P00480.3 |
| UniProt Secondary Accession: | P00480,Q3KNR1, Q6B0I1, Q9NYJ5, A8K9P2, D3DWB0, |
| UniProt Related Accession: | P00480 |
| Molecular Weight: | 39,935 Da |
| NCBI Full Name: | Ornithine carbamoyltransferase, mitochondrial |
| NCBI Synonym Full Names: | ornithine carbamoyltransferase |
| NCBI Official Symbol: | OTC�� |
| NCBI Official Synonym Symbols: | OCTD�� |
| NCBI Protein Information: | ornithine carbamoyltransferase, mitochondrial |
| UniProt Protein Name: | Ornithine carbamoyltransferase, mitochondrial |
| UniProt Synonym Protein Names: | Ornithine transcarbamylase; OTCase |
| UniProt Gene Name: | OTC�� |
| UniProt Entry Name: | OTC_HUMAN |
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