NDUFAF3

NDUFAF3
Identifiers
Aliases	NDUFAF3, 2P1, C3orf60, E3-3, NADH:ubiquinone oxidoreductase complex assembly factor 3, MC1DN18
External IDs	OMIM: 612911; MGI: 1913956; HomoloGene: 32460; GeneCards: NDUFAF3; OMA:NDUFAF3 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	49,023,495 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	108,444,633 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; apex of heart; ; right auricle; ; C1 segment; ; right adrenal gland; ; anterior pituitary; ; left adrenal gland; ; left adrenal cortex; ; right adrenal cortex;
	Top expressed in
	left ventricle; ; interventricular septum; ; spermatocyte; ; adrenal gland; ; proximal tubule; ; right kidney; ; striatum of neuraxis; ; white adipose tissue; ; dentate gyrus of hippocampal formation granule cell; ; testicle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrial inner membrane; membrane; mitochondrion; nucleus;
Biological process	mitochondrial respiratory chain complex I assembly;
	Sources:Amigo / QuickGO
Orthologs
	25915
	66706
	ENSG00000178057
	ENSMUSG00000070283
	Q9BU61
	Q9JKL4
	NM_199417; NM_199069; NM_199070; NM_199073; NM_199074
	NM_023247
	NP_951032; NP_951033; NP_951047; NP_951056
	NP_075736
	Wikidata
View/Edit Human	View/Edit Mouse

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, also known as 2P1, E3-3, or C3orf60, is a protein that in humans is encoded by the NDUFAF3 gene.^[5]^[6]^[7] NDUFAF3 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.^[8]^[9] Mutations in this gene have been associated with severe complex I deficiency and Leigh syndrome.^[5]^[9]^[10]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000178057 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000070283 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-07-25.
^ "NDUFAF3 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 - Homo sapiens (Human) - NDUFAF3 gene & protein". www.uniprot.org. Retrieved 2018-07-25.
^ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
^ Donald Voet; Judith G. Voet; Charlotte W. Pratt (2013). "18". Fundamentals of biochemistry : life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN 9780470547847.
^ ^a ^b Cite error: The named reference :5 was invoked but never defined (see the help page).
^ Cite error: The named reference :2 was invoked but never defined (see the help page).