COX18 (cytochrome c oxidase assembly factor COX18)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 285521 |
| Gene name | Cytochrome c oxidase assembly factor COX18 |
| Gene symbol | COX18 |
| Synonyms (NCBI Gene) |
COX18HSOXA1L2
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| Chromosome | 4 |
| Chromosome location | 4q13.3 |
| Summary | This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative spli |
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miRNA
miRNA information provided by mirtarbase database.
591
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8N8Q8 | ||||||||||
| Protein name | Cytochrome c oxidase assembly protein COX18, mitochondrial (COX18Hs) (Cytochrome c oxidase assembly protein 18) | ||||||||||
| Protein function | Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabi | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 333 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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