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NDUFS4
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Defects in NDUFS4 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 NDUFS4 subunit family. Note: This description may include information from UniProtKB.
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| Protein type: EC 1.6.5.3; EC 1.6.99.3; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Oxidoreductase |
| Chromosomal Location of Human Ortholog: 13|13 D2.2 |
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Cellular Component:
membrane; mitochondrial inner membrane; mitochondrial respiratory chain complex I; mitochondrion
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Molecular Function:
NADH dehydrogenase (ubiquinone) activity; oxidoreductase activity, acting on NADH or NADPH
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Biological Process:
brain development; cAMP-mediated signaling; cellular respiration; mitochondrial respiratory chain complex I assembly; positive regulation of fibroblast proliferation; reactive oxygen species metabolic process; regulation of protein amino acid phosphorylation; response to cAMP
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Reference #:
Q9CXZ1
(UniProtKB)
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Alt. Names/Synonyms: 6720411N02Rik; C1-18k; CI-18 kDa; CI-AQDQ; Complex I-18 kDa; Complex I-AQDQ; NADH dehydrogenase (ubiquinone) Fe-S protein 4; NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; NADH-ubiquinone oxidoreductase 18 kDa subunit; Ndufs4; NDUS4
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Gene Symbols: Ndufs4
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Molecular weight:
19,785 Da
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Basal Isoelectric point:
10
Predict pI for various phosphorylation states
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