Rabbit anti-Human NDUFAF2 Polyclonal Antibody

Uniprot Id

Q8N183

Target Species

Human

Target Name

NDUFAF2

Target Full Name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Target Function

Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Target Involvement

Mitochondrial complex I deficiency (MT-C1D); Leigh syndrome (LS)

Target Subcellular Location

Mitochondrion.

Target Protein Families

Complex I NDUFA12 subunit family

Target Tissue Specificity

Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.

Target Synonyms

B17.2 like; B17.2-like; B17.2L; FLJ22398; MIMIT_HUMAN; Mimitin; Mimitin mitochondrial ; mitochondrial; MMTN; Myc induced mitochondrial protein; Myc-induced mitochondrial protein; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 2; NADH dehydrogenase (ubiquinone) complex I; assembly factor 2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; NDUFA12 like; NDUFA12 like protein ; NDUFA12-like protein; NDUFA12L; NDUFAF2; OTTHUMP00000161882; OTTHUMP00000221703

Target Background

NADH:ubiquinone oxidoreductase (complex I) 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. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency.