NFU1 Chromosome 2
NFU1 iron-sulfur cluster scaffold
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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000169599
Associated Conditions (7)
Multiple mitochondrial dysfunctions syndrome 1
Spastic paraplegia 93
autosomal recessive
Inborn genetic diseases
NFU1-related disorder
Uterine corpus endometrial carcinoma
Familial cancer of breast
Key Variants
RS1339043479
Conflicting classifications of pathogenicity
Health Risk
RS181762580
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS199927640
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS201634470
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93, autosomal recessive
Health Risk
RS372505661
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS559190059
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS561482249
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS765309844
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS773351968
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS1281276965
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 1, NFU1-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS1464338870
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
Health Risk
RS2104735490
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93, autosomal recessive
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1339043479 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181762580 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS199927640 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS201634470 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93, autosomal recessive |
| RS372505661 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS559190059 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS561482249 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS765309844 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 1 |
| RS773351968 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS1281276965 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 1, NFU1-related disorder, Uterine corpus endometrial carcinoma |
| RS1464338870 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS2104735490 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93, autosomal recessive |
| RS371546359 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |
| RS374514431 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 1, NFU1-related disorder, Multiple mitochondrial dysfunctions syndrome 1 |
| RS756085990 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 1, Familial cancer of breast, Multiple mitochondrial dysfunctions syndrome 1 |
| RS1354126704 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1 |