C20orf7 cdna clone
C20orf7 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Uniprot Description
NDUFAF5: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity. Defects in NDUFAF5 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. Defects in NDUFAF5 are a cause of Leigh syndrome (LS). An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Belongs to the methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; Methyltransferase; EC 2.1.1.-
Chromosomal Location of Human Ortholog: 20p12.1
Cellular Component: mitochondrial inner membrane
Biological Process: mitochondrial respiratory chain complex I assembly
Disease: Mitochondrial Complex I Deficiency
Research Articles on C20orf7
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Product Notes
The C20orf7 ndufaf5 (Catalog #AAA1271749) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgtttggag gcgacacact ctatgaactt cggtgttcct tacagttagc ggaaacggaa agggaaggag gattttctcc acacatttct cctttcactg ctgtcaatga cctgggacat ctgcttggga gagctggctt taatactctg actgtggaca ctgatgaaat tcaagttaac tatcctggaa tgtttgaatt gatggaagat ttacaaggta tgggtgagag taactgtgct tggaatagaa aagccctgct gcatcgagac acaatgctgg cagctgcggc agtgtacaga gaaatgtaca gaaatgaaga tggttcagta cctgctacat accagatcta ttacatgata ggatggaaat atcatgagtc acaggcaaga ccagctgaaa gaggttccgc aactgtgtca tttggagagc taggaaaaat aaacaacctt atgccaccgg ggaaaaaatc acaataa. It is sometimes possible for the material contained within the vial of "C20orf7, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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