NDUFAF5 Chromosome 20
NADH:ubiquinone oxidoreductase complex assembly factor 5
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What This Gene Does
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|7BS non-methyltransferases"
Locus Type
gene with protein product
Location
20p12.1
Ensembl
ENSG00000101247
Associated Conditions (16)
Mitochondrial complex I deficiency
nuclear type 16
Leigh syndrome
Inborn genetic diseases
NDUFAF5-related disorder
Ovarian serous cystadenocarcinoma
Thymoma
Adrenocortical carcinoma
hereditary
Leber plus disease
nuclear type 1
Thyroid cancer
nonmedullary
1
Sarcoma
Uterine carcinosarcoma
Key Variants
RS118203929
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency
Health Risk
RS1359810808
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency
Health Risk
RS139219896
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency
Health Risk
RS141758325
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 16
Health Risk
RS150955045
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
Health Risk
RS199543540
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS200756131
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS201262678
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency
Health Risk
RS373951216
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 16
Health Risk
RS540882370
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS570143443
Conflicting classifications of pathogenicity
Health Risk
RS572478240
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2516188730 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency |
| RS368690277 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 16 |
| RS576780935 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency |
| RS747228795 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency |
| RS757043077 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, NDUFAF5-related disorder |
| RS758513858 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency |
| RS761389904 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 16 |
| RS778103632 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 16, Mitochondrial complex I deficiency |