Gene: NFU1

Alternate names for this Gene: CGI-33|HIRIP|HIRIP5|MMDS1|NIFUC|Nfu|NifU

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: NFU1 iron-sulfur cluster scaffold

Type of Gene: protein-coding

rs11892371 in NFU1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1354126704 in NFU1 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 PMID 22077971 2011 A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

PMID 28906594 2017 Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.

PMID 25918518 2015 Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

PMID 21944046 2011 Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

PMID 28161430 2017 Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.

rs6758228 in NFU1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.