Gene Symbol | NFU1 |
Entrez Gene ID | 27247 |
Full Name | NFU1 iron-sulfur cluster scaffold |
Synonyms | CGI-33,HIRIP,HIRIP5,MMDS1,NIFUC,Nfu,NifU |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) |