COA7

cytochrome c oxidase assembly factor 7

Ensembl:
ENSG00000162377
UniProt:
Q96BR5
OMIM:
615623
Synonyms:
C1ORF163, FLJ12439, RESA1, SELRC1

Cilia effects upon perturbation of COA7

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

Subcellular localization

cilia associated gene, mitochondria

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the COA7 gene cause Spinocerebellar Ataxia (PMID: 29718187).