Centrosomal Protein Of 89 Kda (CEP89) Reagents

Centrosomal protein of 89 kDa

Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.

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.

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

CCDC123; Centrosomal protein 89 kDa; Centrosomal protein of 89 kDa; cep89; CEP89_HUMAN; Coiled-coil domain-containing protein 123; Coiled-coil domain-containing protein 123; mitochondrial; FLJ14640