COX7B Chromosome X
Cytochrome c oxidase subunit 7B
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What This Gene Does
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000131174
Associated Conditions (3)
Inborn genetic diseases
Linear skin defects with multiple congenital anomalies 2
Nonpapillary renal cell carcinoma
Key Variants
RS2522061549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782218608
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782304953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1557220472
Likely pathogenic
Health Risk
RS397514583
Pathogenic
Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2
Health Risk
RS397514584
Pathogenic
Linear skin defects with multiple congenital anomalies 2, Nonpapillary renal cell carcinoma, Linear skin defects with multiple congenital anomalies 2
Health Risk
RS397514585
Pathogenic
Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522061549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782218608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782304953 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557220472 | Health Risk | Likely pathogenic | — |
| RS397514583 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2 |
| RS397514584 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 2, Nonpapillary renal cell carcinoma, Linear skin defects with multiple congenital anomalies 2 |
| RS397514585 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2 |