Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.
Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level).
Involvement in disease
Defects in NUBPL are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Belongs to the Mrp/NBP35 ATP-binding proteins family.
Immunoprecipitation - Anti-Nucleotide binding protein like antibody [EPR11833] (ab171741)
Western blot analysis on immunoprecipitation pellet from 293T cell lysate (lane 1) labeling Nucleotide binding protein like, or 1X PBS (Lane 2: negative control) using ab171741 at 1/10 dilution, and HRP-conjugated anti-rabbit IgG preferentially detecting the non-reduced form of rabbit IgG.
Immunocytochemistry/ Immunofluorescence - Anti-Nucleotide binding protein like antibody [EPR11833] (ab171741)
Immunofluorescent analysis of HepG2 cells labeling Nucleotide binding protein like using ab171741 at 1/50 dilution.
Western blot - Anti-Nucleotide binding protein like antibody [EPR11833] (ab171741)
All lanes : Anti-Nucleotide binding protein like antibody [EPR11833] (ab171741) at 1/10000 dilution
Lane 1 : Human fetal kidney lysate Lane 2 : 293T cell lysate Lane 3 : HeLa cell lysate Lane 4 : HepG2 cell lysate