Product Name
C8orf38, cDNA Clone
Full Product Name
C8orf38 cDNA Clone
Product Gene Name
C8orf38 cdna clone
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
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
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of C8orf38 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for C8orf38. It may not necessarily be applicable to this product.
NCBI Accession #
BC028166
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UniProt Secondary Accession #
Q8N6U6; A8MT28; A8MWF0; B4DQ45[Other Products]
UniProt Related Accession #
Q330K2[Other Products]
Molecular Weight
13,125 Da
NCBI Official Full Name
Homo sapiens chromosome 8 open reading frame 38, mRNA
NCBI Official Synonym Full Names
NADH:ubiquinone oxidoreductase complex assembly factor 6
NCBI Official Symbol
NDUFAF6 [Similar Products]
NCBI Official Synonym Symbols
C8orf38
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NCBI Protein Information
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
UniProt Protein Name
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
UniProt Synonym Protein Names
Putative phytoene synthase
UniProt Gene Name
NDUFAF6 [Similar Products]
UniProt Synonym Gene Names
C8orf38 [Similar Products]
UniProt Entry Name
NDUF6_HUMAN
NCBI Summary for C8orf38
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 Comments for C8orf38
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 *****-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
1. In a forward genetic screen to identify genes that cause neurodegeneration, we identified sicily, the Drosophila melanogaster homologue of human C8ORF38, the loss of which causes Leigh syndrome.
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Disclaimer
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