NFU1 Human

The NFU1 gene is located on the short arms of chromosomes 1 and 3, with pseudogenes also present in these regions . The gene undergoes alternative splicing, resulting in multiple transcript variants encoding different isoforms of the protein . The recombinant human NFU1 protein is typically expressed in Escherichia coli and purified using conventional chromatography techniques .

NFU1 is integral to the proper functioning of mitochondria, as it is involved in the assembly and transfer of iron-sulfur clusters. These clusters are vital for the activity of various mitochondrial enzymes. Mutations in the NFU1 gene can lead to multiple mitochondrial dysfunctions syndrome-1 (MMDS1), a severe metabolic disorder .

Recombinant human NFU1 protein is often used in research to study its function and role in mitochondrial processes. The protein is typically fused to a His-tag at the N-terminus to facilitate purification and is expressed in E. coli . The molecular weight of the recombinant protein is approximately 29.9 kDa, and it is usually provided in a phosphate-buffered saline solution containing 20% glycerol .

Recombinant NFU1 protein is used in various biochemical and biophysical studies to understand its role in iron-sulfur cluster biogenesis. It is also used in studies related to mitochondrial diseases and metabolic disorders .

The recombinant NFU1 protein should be stored at +2°C to +8°C for short-term use and at -20°C to -80°C for long-term storage. It is important to avoid repeated freezing and thawing cycles to maintain the protein’s stability and activity .