Entity Details
Primary name |
COX42_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q96KJ9 |
EntryName | COX42_HUMAN |
FullName | Cytochrome c oxidase subunit 4 isoform 2, mitochondrial |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 171 |
SequenceStatus | complete |
DateCreated | 2002-04-03 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Mitochondrion inner membrane |
Domains
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Domain | Name | Category | Type |
IPR004203 | Cytochrome c oxidase subunit IV family | Family | Family |
IPR013288 | Cytochrome c oxidase subunit IV | Family | Family |
IPR036639 | Cytochrome c oxidase subunit IV superfamily | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
612714 | OMIM | Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) | Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions