NDUFAF2
| NDUFAF2 | |||
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| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 5: 60.95 – 61.15 Mb | Chr 13: 108.14 – 108.3 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), also known as B17.2L or NDUFA12L is a
mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.[6][7] Mutations in this gene have been associated with progressive encephalopathy and Leigh disease resulting from mitochondrial complex I deficiency.[5]
Structure
NDUFAF2 is located on the q arm of chromosome 5 in position 12.1.[5] The NDUFAF2 gene produces a 20 kDa protein composed of 169 amino acids.[8][9] The protein is a chaperone of the complex I NDUFA12 subunit family.[10][11]
Function
NADH:ubiquinone oxidoreductase (complex I)
molecular chaperone, associating with an 830 kDa subassembly in the late stages of complex I assembly.[7]
Clinical significance
Mutations in NDUFAF2 have been associated with complex I deficiency and
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.[10][11] Clinically, NDUFAF2 mutations have been associated with progressive encephalopathy[7] and Leigh disease.[12][13]
Interactions
In addition to co-complexes, NDUFAF2 has protein-protein interactions with CYB5B SEC22B, TMEM97, TMEM201, SPG21, LPAR3, STX8, OPTN.[14]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000164182 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068184 – 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 c d "Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2". Retrieved 2018-07-23.
- ISBN 9780470547847.
- ^ PMID 16200211.
- PMID 23965338.
- ^ Yao, Daniel. "Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) —— Protein Information". amino.heartproteome.org. Retrieved 2018-07-23.
- ^ a b "NDUFAF2 - NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 precursor - Homo sapiens (Human) - NDUFAF2 gene & protein". www.uniprot.org. Retrieved 2018-07-23.
- ^ PMID 27899622.
- S2CID 46175747.
- S2CID 32746835.
- ^ IntAct. "21 Binary interactions for NDUFAF2". IntAct. Retrieved 2018-07-23.
Further reading
- Tsuneoka M, Teye K, Arima N, Soejima M, Otera H, Ohashi K, Koga Y, Fujita H, Shirouzu K, Kimura H, Koda Y (May 2005). "A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma". J. Biol. Chem. 280 (20): 19977–85. PMID 15774466.
- Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG (June 2007). "Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients". Mol. Genet. Metab. 91 (2): 176–82. PMID 17383918.
- Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN (December 2008). "Polymorphisms in mitochondrial genes and prostate cancer risk". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3558–66. PMID 19064571.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. PMID 20379614.
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. PMID 20877624.
- Chen M, Huang H, He H, Ying W, Liu X, Dai Z, Yin J, Mao N, Qian X, Pan L (August 2015). "Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines". Cancer Sci. 106 (8): 1075–83. PMID 26033570.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.