Full name: NFU1 iron-sulfur cluster scaffold

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CGI-33; HIRIP; HIRIP5; MMDS1; NIFUC; Nfu; NifU

Summary: This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Expression: Ubiquitous expression in fat (RPKM 30.5), kidney (RPKM 17.0) and 25 other tissues

Gene size: 43818bp

Exon count: 11