CEP89
Function
Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.
Involvement in disease
Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Cytoskeleton
- Spindle pole
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- Mitochondrion intermembrane space
- Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.
Alternative names
CCDC123, CEP89, Centrosomal protein of 89 kDa, Cep89, Centrosomal protein 123, Coiled-coil domain-containing protein 123, Cep123