SCO1 synthesis of cytochrome C oxidase 1
Gene ID: 6341, updated on 5-Mar-2024Gene type: protein coding
Also known as: SCOD1; MC4DN4
- See all available tests in GTR for this gene
- Go to complete Gene record for SCO1
- Go to Variation Viewer for SCO1 variants
Summary
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
| Genome-wide and fine-resolution association analysis of malaria in West Africa. GeneReviews: Not available | |
| Mitochondrial complex 4 deficiency, nuclear type 4 | See labs |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (10672474..10697533, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SCO1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SCO1 database
- Variation ViewerRelated Variants
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