NUBPL Chromosome 14
NUBP iron-sulfur cluster assembly factor, mitochondrial
Upload your DNA to see your personal genotypes for variants in NUBPL.
What This Gene Does
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components"
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000151413
Associated Conditions (7)
Mitochondrial complex I deficiency
nuclear type 1
Inborn genetic diseases
NUBPL-related disorder
nuclear type 21
See cases
Mitochondrial oxidative phosphorylation disorder
Key Variants
RS111321293
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS11558436
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS118161496
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 21
Health Risk
RS200401432
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 21
Health Risk
RS201073307
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder
Health Risk
RS201412882
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, See cases
Health Risk
RS34570972
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS35330765
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder
Health Risk
RS35867418
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS373232503
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS377077969
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS397515440
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 21, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111321293 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS11558436 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS118161496 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 21 |
| RS200401432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 21 |
| RS201073307 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder |
| RS201412882 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, See cases |
| RS34570972 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS35330765 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder |
| RS35867418 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS373232503 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS377077969 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS397515440 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 21, Inborn genetic diseases |
| RS45468395 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS540769784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556060060 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS567437692 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial oxidative phosphorylation disorder, Mitochondrial complex I deficiency, nuclear type 21 |
| RS61752327 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder |
| RS745351097 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754769393 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS755482148 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS765747555 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 21 |
| RS774987214 | Health Risk | Conflicting classifications of pathogenicity | NUBPL-related disorder, Mitochondrial complex I deficiency, nuclear type 21 |
| RS77539990 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NUBPL-related disorder |
| RS868061310 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1555338209 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS2033399542 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS863224123 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS1273822033 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS1431275151 | Health Risk | Pathogenic | — |
| RS2139436177 | Health Risk | Pathogenic | — |
| RS2139812107 | Health Risk | Pathogenic | — |
| RS552722349 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS749681373 | Health Risk | Pathogenic | — |
| RS767543623 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS879255565 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |
| RS201430951 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, Inborn genetic diseases, nuclear type 21 |
| RS751631278 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 21, Mitochondrial complex I deficiency |