NDUFAF1 Recombinant Rabbit Monoclonal Antibody [JE47-18] (ET7109-54)

UNIPROT #

Q9Y375

PROTEIN NAME

NDUFAF1

SYNONYMS

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

SEQUENCE SIMILARITIES

Belongs to the CIA30 family.

TISSUE SPECIFICITY

Ubiquitous.

SUBCELLULAR LOCATION

Mitochondrion.

FUNCTION

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. Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9. Interacts with ECSIT. Interacts with ACAD9. At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3