NUBPL
Function
Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196).
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 21
MC1DN21
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mrp/NBP35 ATP-binding proteins family.
Tissue Specificity
Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level).
Cellular localization
- Mitochondrion
Alternative names
C14orf127, NUBPL, Iron-sulfur cluster transfer protein NUBPL, IND1 homolog, Nucleotide-binding protein-like, huInd1