Protein Overview:
NDUFA12 is a 17 kDa accessory subunit of Complex I, encoded by the NDUFA12 gene located on chromosome 12q22 . It contributes to the stability and assembly of Complex I but is not directly involved in catalysis . Mutations in NDUFA12 are linked to mitochondrial disorders like Leigh syndrome, characterized by neurodegeneration and Complex I deficiency .
Antibody Targeting:
The NDUFA12 antibody binds to the hydrophilic domain of the protein, which interacts with globular subunits of Complex I. This interaction facilitates structural studies and diagnostic assays .
Immunogen:
Antibodies are typically generated using recombinant full-length NDUFA12 protein or synthetic peptides corresponding to its hydrophilic regions (e.g., residues 1–145) .
Applications:
Mitochondrial Disorders:
Antibodies detect Complex I defects in Leigh syndrome and isolated Complex I deficiency . A study using the 15793-1-AP antibody identified novel NDUFA12 variants linked to variable clinical manifestations .
Cancer Research:
NDUFA12 is a therapeutic target in cancers reliant on oxidative phosphorylation. The ab237731 antibody confirmed that the anticancer compound Ertredin binds NDUFA12, disrupting energy metabolism in glioblastoma and multiple myeloma cells .
Therapeutic Development:
A methylated Ertredin analogue, 7MeERT, showed enhanced binding affinity to NDUFA12 (CDOCKER energy: −23.3355 kcal/mol) compared to Ertredin (−17.2322 kcal/mol), correlating with improved antitumor activity .
Biomarker Potential:
NDUFA12 antibodies are used to assess mitochondrial dysfunction in biopsies and cultured cells. For example, HPA039903 validated NDUFA12 expression in human kidney and gastric cancer tissues .
Therapeutic Monitoring:
Inhibitors targeting NDUFA12 (e.g., Ertredin and 7MeERT) are under investigation for cancer therapy. Antibodies enable monitoring of drug-protein interactions and treatment efficacy .
NDUFA12 is an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). While it is not believed to be directly involved in catalytic activity, it plays a crucial role in the overall function of Complex I. This complex facilitates the transfer of electrons from NADH to the respiratory chain, with ubiquinone believed to be the immediate electron acceptor.