CEP89
Description
The CEP89 (centrosomal protein 89) is a protein-coding gene located on chromosome 19.
Centrosomal protein 89, also known as Centrosomal protein of 89 kDa (CEP89), Centrosomal protein 123 (CEP123), or Coiled-coil domain-containing protein 123 is a protein that in humans is encoded by the CEP89 gene.
== Structure == The CEP89 gene is located on the q arm of chromosome 19 at position 13.11 and it spans 96,104 base pairs. The CEP89 gene produces a 54.4 kDa protein composed of 476 amino acids. The structure of the protein has been found to be similar to a ring. It is associated and dependent on the orientation of centrioles, which are attached in the exterior region. The protein contains two coiled-coil domains and a putative mitochondrial-targeting signal. Experiments have shown that CEP89 is found within the intermembrane space, as well as the cytosol of the mitochondria.
== Function == The CEP89 gene encodes for a protein required for ciliogenesis. It plays a role in mitochondrial metabolism by modulating complex IV activity. CEP89 has also been shown to be responsible for the integrity of the mitochondria, membrane depolarization, synaptic transmission of photoreceptor neurons and for the synaptic organization of the larval neuromuscular junction.
CEP89 is also known as CCDC123, CEP123.
