Entity Details
Primary name |
UQCC3_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q6UW78 |
EntryName | UQCC3_HUMAN |
FullName | Ubiquinol-cytochrome-c reductase complex assembly factor 3 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 93 |
SequenceStatus | complete |
DateCreated | 2004-11-23 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Mitochondrion inner membrane |
Domains
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Domain | Name | Category | Type |
IPR027896 | Ubiquinol-cytochrome-c reductase complex assembly factor 3 | Family | Family |
Diseases
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Disease ID | Source | Name | Description |
616111 | OMIM | Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) | A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction