COA7 Chromosome 1
Cytochrome c oxidase assembly factor 7
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What This Gene Does
Enables protein-disulfide reductase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion and nucleoplasm. Is active in mitochondrial intermembrane space. Implicated in spinocerebellar ataxia with axonal neuropathy type 3. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000162377
Associated Conditions (3)
Spinocerebellar ataxia
autosomal recessive
with axonal neuropathy 3
Key Variants
RS1553254475
Likely pathogenic
Health Risk
RS2149904888
Likely pathogenic
Health Risk
RS767873164
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
RS780593265
Likely pathogenic
Health Risk
RS1197945739
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
RS1558102448
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
RS1558102464
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
RS780572767
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
RS961876891
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553254475 | Health Risk | Likely pathogenic | — |
| RS2149904888 | Health Risk | Likely pathogenic | — |
| RS767873164 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| RS780593265 | Health Risk | Likely pathogenic | — |
| RS1197945739 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| RS1558102448 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| RS1558102464 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| RS780572767 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| RS961876891 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |