Gene
COX18
cytochrome c oxidase assembly factor COX18
- HGNC 26801↗(opens in a new tab)
- Ensembl gene ENSG00000163626↗(opens in a new tab)
- NCBI Gene 285521↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q13.3
- Coordinates
- Chromosome 4: 73,052,362–73,069,716 (GRCh38)
- Exons
- 6 exons across 17.4 kb
- Protein
- 334 amino acids
- Also known as
- FLJ38991, OXA1L2
- MANE Select transcript
- ENST00000507544.3NM_001297732.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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How COX18 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.8 kb of the gene's 17.4 kb; 1,005 of those bases code for the protein.
Traits linked to COX18
The Human Phenotype Ontology lists these as features of the rare conditions COX18 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Ankle instability
- Distal lower limb muscle weakness
- Hammertoe
- High-arched foot
- Talipes cavus equinovarus
- Distal upper limb amyotrophy
- Distal upper limb muscle weakness
- Absent ankle reflexes
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). COX18 gene: cytochrome c oxidase assembly factor COX18. Retrieved 17 October 2026, from https://dantelabs.com/genes/cox18
Dante Labs. COX18 gene: cytochrome c oxidase assembly factor COX18 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cox18
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