BC028166
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UniProt Secondary Accession #
UniProt Related Accession #
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 Synonym Symbols
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 Synonym Gene Names
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 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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Diseases associated with C8orf38 cdna clone
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