NDUFB8 - NADH:ubiquinone oxidoreductase subunit B8 Gene
Also Known as ASHI; CI-ASHI; MC1DN32
Species: Homo sapiens
About NDUFB8
This gene has 9 transcripts (splice variants), 243 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 90.4), kidney (RPKM 70.2) and 25 other tissues.
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in endoplasmic reticulum and mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]
NDUFB8 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001284367.2 | NP_001271296.1 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2 |
| NM_001284368.1 | NP_001271297.1 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 3 |
| NM_005004.4 | NP_004995.1 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 1 precursor |
NDUFB8 Protein Structure
NDUF_B8: NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8) (7 - 186)
- 0
- 100
- 186 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial |
|
NDUFB8 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810676 | Total OXPHOS Antibody (YA9934) | WB, IHC-P | Human |
| HY-P82202 | NDUFB8 Antibody (YA1947) | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
| HY-P86493 | NDUFB8 Antibody (YA6185) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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| Leigh Syndrome With Cardiomyopathy |
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| Nuclear Type Mitochondrial Complex I Deficiency |
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| Leigh Syndrome |
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| Leukodystrophy |
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| Myopathy |
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| Mitochondrial Myopathy |
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| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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| Leber Hereditary Optic Neuropathy, Modifier Of |
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | NDUFB8 | MGD | MGI:1914514 |
| Rattus norvegicus | NDUFB8 | RGD | RGD:1309129 |
| Canis familiaris | NDUFB8 | VGNC | VGNC:53001 |
| Others | NDUFB8 | NCBI |