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MC4DN7
Chr 19ARcytochrome c oxidase subunit 6B1
Also known as: COX6B, COXG, COXVIb1, MC4DN7
This gene encodes subunit VIb of cytochrome c oxidase (complex IV), which catalyzes electron transfer from cytochrome c to oxygen as the terminal enzyme of the mitochondrial respiratory chain. Mutations cause mitochondrial complex IV deficiency, nuclear type 7, presenting as severe infantile encephalomyopathy with autosomal recessive inheritance. The condition affects both brain and muscle systems with onset in infancy.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MC4DN7?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MC4DN7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for MC4DN7
External Resources
Links to major genomics databases and tools