NFU1 Human Recombinant Protein

NFU1: Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins. Defects in NFU1 are the cause of multiple mitochondrial dysfunctions syndrome type 1 (MMDS1). A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. Belongs to the NifU family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 2p15-p13

Cellular Component: cytoplasm; cytosol; mitochondrion; nucleoplasm; nucleus

Molecular Function: 4 iron, 4 sulfur cluster binding; iron ion binding; protein binding

Biological Process: iron-sulfur cluster assembly

Disease: Multiple Mitochondrial Dysfunctions Syndrome 1