COX6B1 Chromosome 19
Cytochrome c oxidase subunit 6B1
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What This Gene Does
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000126267
Associated Conditions (4)
Mitochondrial complex IV deficiency
nuclear type 1
nuclear type 7
Inborn genetic diseases
Key Variants
RS116118827
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS1967822544
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS202098389
Conflicting classifications of pathogenicity
Health Risk
RS377025450
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 7, Inborn genetic diseases
Health Risk
RS569060938
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121909602
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 7
Health Risk
RS778740017
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116118827 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1967822544 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS202098389 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377025450 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 7, Inborn genetic diseases |
| RS569060938 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121909602 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, nuclear type 7 |
| RS778740017 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |