ISCU Human

The Iron-Sulfur Cluster Scaffold Homolog, also known as NFU1, is a protein that plays a critical role in the biogenesis of iron-sulfur (Fe-S) clusters. These clusters are essential cofactors for a variety of cellular processes, including mitochondrial respiration, DNA repair, and enzyme catalysis. The human recombinant form of this protein is often used in research to study its function and role in various biological pathways.

The NFU1 gene is located on chromosome 2p13.3 and encodes a protein that is localized to the mitochondria . The protein consists of several domains, including an N-terminal domain, a central domain, a linker region, and a C-terminal domain. The human recombinant form of NFU1 typically includes a His-tag for purification purposes and corresponds to the amino acids 10-254 of the native protein .

NFU1 is involved in the assembly and transfer of [4Fe-4S] clusters to target apoproteins. These clusters are crucial for the proper functioning of enzymes such as succinate dehydrogenase and lipoic acid synthase . The protein plays an essential role in the maturation of lipoate-containing 2-oxoacid dehydrogenases and the assembly of mitochondrial respiratory chain complexes .

The human recombinant NFU1 protein is typically produced in E. coli expression systems. The protein is purified using chromatographic techniques to achieve a purity of over 90%, as determined by SDS-PAGE . The recombinant protein is often stored in a buffer containing PBS (pH 7.4) and 20% glycerol to maintain its stability .

Mutations in the NFU1 gene are associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) and spastic paraplegia 93, autosomal recessive . These conditions highlight the importance of NFU1 in maintaining mitochondrial function and overall cellular health.