NDUFAF5 Products

Description

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer ofelectrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the innermitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of themitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrialcomplex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq)

Bioinformatics

Entrez	79133 Human
Uniprot	NP_077025 Human Q5TEU4 Human NM_001039375 Human AAH05984 Human
Product By Gene ID	79133
Alternate Names	C20orf7 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 EC 2.1.1 MGC90272 EC 2.1.1.- FLJ22324 probable methyltransferase C20orf7, mitochondrial dJ842G6.1 bA526K24.2 chromosome 20 open reading frame 7

Diseases related to NDUFAF5

Discover more about diseases related to NDUFAF5.

Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency
Mitochondrial Diseases
Leigh Disease
Neurodegenerative Disorders
Nervous System Disorder

Pathways for NDUFAF5

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Oxidative Phosphorylation
Methylation
Pathogenesis

PTMs for NDUFAF5

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Phosphorylation
Methylation

Bioinformatics Tool for NDUFAF5

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