COA7
Function
Required for assembly of mitochondrial respiratory chain complex I and complex IV.
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
SCAN3
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the hcp beta-lactamase family.
Cellular localization
- Mitochondrion intermembrane space
- The import in the mitochondrion intermembrane space is mediated by CHCHD4/MIA40.
Alternative names
C1orf163, RESA1, SELRC1, COA7, Cytochrome c oxidase assembly factor 7, Beta-lactamase hcp-like protein, Respiratory chain assembly factor 1, Sel1 repeat-containing protein 1