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Gene id |
4722 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
NDUFS3 Gene UCSC Ensembl |
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Aliases |
CI-30, MC1DN8 |
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Gene name |
NADH:ubiquinone oxidoreductase core subunit S3 |
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Alternate names |
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial, CI-30kD, NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase), NADH dehydrogenase-ubiquinone 30 kDa subunit, NADH-ubiquinone oxidoreductase 30 kDa subunit, compl, |
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Gene location |
11p11.2 (47579073: 47584561) Exons: 7 NC_000023.11
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Gene summary(Entrez) |
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq,
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OMIM |
603846 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Mitochondrial diseases | KEGG: H00473 |
| Leigh syndrome | KEGG: H01354 |
| Asthenozoospermia | MIK: 29849492 |
| Asthenozoospermia, Male infertility | MIK: 29849492 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29849492 |
Asthenozoo
spermia, M
ale infert
ility
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Male infertility |
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Show abstract |
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