Human COQ9 Recombinant Protein (RPPB1503)
- SKU:
- RPPB1503
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- O75208
- Research Area:
- Enzymes
Description
| Product Name: | Human COQ9 Recombinant Protein |
| Product Code: | RPPB1503 |
| Size: | 20µg |
| Species: | Human |
| Target: | COQ9 |
| Synonyms: | Ubiquinone biosynthesis protein COQ9, mitochondrial, C16orf49,COQ10D5, C16orf49, HSPC326, PSEC0129. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | COQ9 protein solution (1mg/ml) in Phosphate buffered saline (pH7.4), 10% glycerol and 1mM DTT. |
| 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 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSRSSDEQK QQPPNSFSQQ HSETQGAEKP DPESSHSPPR YTDQGGEEEEDYESEEQLQH RILTAALEFV PAHGWTAEAI AEGAQSLGLS SAAASMFGKD GSELILHFVT QCNTRLTRVLEEEQKLVQLG QAEKRKTDQF LRDAVETRLR MLIPYIEHWP RALSILMLPH NIPSSLSLLT SMVDDMWHYAGDQSTDFNWY TRRAMLAAIY NTTELVMMQD SSPDFEDTWR FLENRVNDAM NMGHTAKQVK STGEALVQGLMGAAVTLKNL TGLNQRR |
Ubiquinone biosynthesis protein COQ9 (COQ9) represents a mitochondrial ubiquinone biosynthesis gene. The COQ9 protein is likely required for biosynthesis of coenzyme Q10, since mutations at this locus have been linked with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.
COQ9 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 297 amino acids (45-318 a.a) and having a molecular mass of 33.3kDa.COQ9 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | COQ9: Involved in the biosynthesis of coenzyme Q. Defects in COQ9 are the cause of coenzyme Q10 deficiency, primary, type 5 (COQ10D5). A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. Belongs to the COQ9 family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Mitochondrial Chromosomal Location of Human Ortholog: 16q21 Cellular Component: mitochondrial inner membrane; mitochondrion Molecular Function:lipid binding; protein binding; protein homodimerization activity Biological Process: ubiquinone biosynthetic process Disease: Coenzyme Q10 Deficiency, Primary, 5 |
| NCBI Summary: | This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010] |
| UniProt Code: | O75208 |
| NCBI GenInfo Identifier: | 74735505 |
| NCBI Gene ID: | 57017 |
| NCBI Accession: | O75208.1 |
| UniProt Secondary Accession: | O75208,Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056, A8K3L2 |
| UniProt Related Accession: | O75208 |
| Molecular Weight: | 14,505 Da |
| NCBI Full Name: | Ubiquinone biosynthesis protein COQ9, mitochondrial |
| NCBI Synonym Full Names: | coenzyme Q9 |
| NCBI Official Symbol: | COQ9�� |
| NCBI Official Synonym Symbols: | COQ10D5; C16orf49�� |
| NCBI Protein Information: | ubiquinone biosynthesis protein COQ9, mitochondrial |
| UniProt Protein Name: | Ubiquinone biosynthesis protein COQ9, mitochondrial |
| Protein Family: | Ubiquinone biosynthesis protein |
| UniProt Gene Name: | COQ9�� |
| UniProt Entry Name: | COQ9_HUMAN |
