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Immunogen sequence: ADDELYQRTR ISLLQREAAQ AMYIDSYNSR GFMINGNRVL GPCALLPHSV VQWNVGSHQD ITEDSF
Highest antigen sequence identity to the following orthologs: Mouse - 82%, Rat - 86%.
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH dehydrogenase (ubiquinone) complex I, assembly factor 3; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3; nuclear protein E3-3
Gene Aliases: 2P1; C3orf60; E3-3; NDUFAF3
UniProt ID: (Human) Q9BU61
Entrez Gene ID: (Human) 25915
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