C8orf38 cdna clone
C8orf38 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Uniprot Description
NDUFAF6: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. Defects in NDUFAF6 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 NDUFAF6 family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: integral to membrane; mitochondrial inner membrane
Molecular Function: transmembrane transporter activity
Biological Process: mitochondrial respiratory chain complex I assembly
Disease: Leigh Syndrome
Research Articles on C8orf38
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Product Notes
The C8orf38 ndufaf6 (Catalog #AAA1268323) 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: atggcggcct ccgcgcacgg ctctgtctgg gggccgttgc ggcttggcat ccccggcctg tgctgccgcc ggccgcctct gggtctgtac gcgcgcatgc ggcggctgcc cgggccggag gtgtctgggc ggagcgtggc tgcggccagc ggaccgggcg cctggggcac tgaccactac tgcctggagc tgctgcggaa acgggattat gaaggttatt tatgctccct gctgctccct gcagaatccc gaagctctgt ttttgcactg agggccttta atgtggaact ggctcaggct ggattactct tgctgctgtc ttgctgtact gtatgccact gggatctgaa cactaaacat tgctaa. It is sometimes possible for the material contained within the vial of "C8orf38, 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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