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NDUFS4

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, Human disease related genes, Metabolic proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Distal tubular cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme. Interacts with BCAP31 and TOMM40; the interaction mediates its translocation to the mitochondria; the interaction with BCAP31 is direct (PubMed:31206022).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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