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- Table of Contents
Facts about NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial.
The immediate electron acceptor for the enzyme is believed to be ubiquinone. .
Human | |
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Gene Name: | NDUFS4 |
Uniprot: | O43181 |
Entrez: | 4724 |
Belongs to: |
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complex I NDUFS4 subunit family |
AQDQ; AQDQmitochondrial; CI-18 kDa; NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Qreductase); NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Qreductase); NADH-coenzyme Q reductase, 18-KD; NADH-ubiquinone oxidoreductase 18 kDa subunit
Mass (kDA):
20.108 kDA
Human | |
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Location: | 5q11.2 |
Sequence: | 5; NC_000005.10 (53560610..53683338) |
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
PMID: 9463323 by van den Heuvel L., et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
PMID: 12616398 by Benit P., et al. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.