Recombinant Human Complex I intermediate-associated protein 30, mitochondrial (NDUFAF1)

Uniprot Id

Q9Y375

Target Species

Human

Target Name

NDUFAF1

Target Full Name

Complex I intermediate-associated protein 30, mitochondrial

Target Function

Chaperone protein involved in early stages of the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Target Subcellular Location

Mitochondrion. Mitochondrion matrix.

Target Protein Families

CIA30 family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

CGI 65; CGI65; CIA30; CIA30_HUMAN; Complex I intermediate associated protein 30; Complex I intermediate associated protein 30 mitochondrial; Complex I intermediate-associated protein 30; mitochondrial; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 1; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1; NADH:ubiquinone oxidoreductase complex assembly factor 1; NDUFAF 1; Ndufaf1

Target Background

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19.