Description
| Product Name: | Human NDUFAF2 Recombinant Protein |
| Product Code: | RPPB2007 |
| Size: | 10µg |
| Species: | Human |
| Target: | NDUFAF2 |
| Synonyms: | Mimitin mitochondrial, B17.2-like, B17.2L, Myc-induced mitochondrial protein, MMTN, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2, NDUFA12-like protein, NDUFAF2, NDUFA12L, mimitin. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | NDUFAF2 protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 20% glycerol and 200mM 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 85.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGWSQDLFRA LWRSLSREVK EHVGTDQFGN KYYYIPQYKN WRGQTIREKR IVEAANKKEV DYEAGDIPTE WEAWIRRTRK TPPTMEEILK NEKHREEIKI KSQDFYEKEK LLSKETSEEL LPPPVQTQIK GHASAPYFGK EEPSVAPSST GKTFQPGSWM PRDGKSHNQ |
Mimitin (NDUFAF2) is a member of the complex I NDUFA12 subunit family.NADH dehydrogenase is an enzyme located in the inner mitochondrial membrane, which catalyzes the transfer of electrons from NADH to coenzyme Q (CoQ). NDUFAF2 is the "entry enzyme" of oxidative phosphorylation in the mitochondria. Mimitin protein functions as a molecular chaperone for mitochondrial complex I assembly.
NDUFAF2 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 189 amino acids (1-169 a.a.) and having a molecular mass of 22kDa.NDUFAF2 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | NDUFAF2: Acts as a molecular chaperone for mitochondrial complex I assembly. Defects in NDUFAF2 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the complex I NDUFA12 subunit family. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 5q12.1 Cellular Component: mitochondrion Molecular Function:NADH dehydrogenase (ubiquinone) activity Disease: Leigh Syndrome; Mitochondrial Complex I Deficiency |
| NCBI Summary: | NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q8N183 |
| NCBI GenInfo Identifier: | 67461055 |
| NCBI Gene ID: | 91942 |
| NCBI Accession: | Q8N183.1 |
| UniProt Secondary Accession: | Q8N183,A8K5I1, |
| UniProt Related Accession: | Q8N183 |
| Molecular Weight: | 169 |
| NCBI Full Name: | Mimitin, mitochondrial |
| NCBI Synonym Full Names: | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 |
| NCBI Official Symbol: | NDUFAF2�� |
| NCBI Official Synonym Symbols: | MMTN; B17.2L; mimitin; NDUFA12L�� |
| NCBI Protein Information: | mimitin, mitochondrial; NDUFA12-like protein; Myc-induced mitochondrial protein; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 |
| UniProt Protein Name: | Mimitin, mitochondrial |
| UniProt Synonym Protein Names: | B17.2-like; B17.2L; Myc-induced mitochondrial protein; MMTN; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; NDUFA12-like protein |
| Protein Family: | Mimitin |
| UniProt Gene Name: | NDUFAF2�� |
| UniProt Entry Name: | MIMIT_HUMAN |
