NP_777549.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
19,856 Da
NCBI Official Full Name
mimitin, mitochondrial
NCBI Official Synonym Full Names
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NCBI Official Synonym Symbols
MMTN; B17.2L; mimitin; NDUFA12L [Similar Products]
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
UniProt Synonym Gene Names
UniProt Entry Name
MIMIT_HUMAN
NCBI Summary for NDUFAF2
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 Comments for NDUFAF2
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.
Chromosomal Location of Human Ortholog: 5q12.1
Cellular Component: mitochondrion
Molecular Function: NADH dehydrogenase (ubiquinone) activity
Disease: Leigh Syndrome; Mitochondrial Complex I Deficiency
Research Articles on NDUFAF2
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Pathways associated with NDUFAF2 elisa kit
Diseases associated with NDUFAF2 elisa kit
Organs/Tissues associated with NDUFAF2 elisa kit
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