SASS6
SASS6 or Spindle Assembly 6 Homolog is a protein that in humans is encoded by the SASS6 gene. It is a centrosomal protein required for centriole duplication and cell cycle progression.
Function[edit | edit source]
SASS6 is a core component of the centriole, a structure that serves as a microtubule organizing center (MTOC) in animal cells. Centrioles are composed of nine triplet microtubules arranged in a cylinder. They are found in pairs and move apart during mitosis or meiosis to form the poles of the spindle.
SASS6 is required for the duplication of centrioles. It forms a complex with STIL, another centriole duplication factor, and this complex is necessary for the proper formation of the procentriole, a structure that forms adjacent to the parent centriole and eventually matures into a new centriole.
Clinical Significance[edit | edit source]
Mutations in the SASS6 gene have been associated with primary microcephaly, a condition characterized by a significantly reduced head size and intellectual disability. This is due to the role of SASS6 in centriole duplication and cell division, which are critical processes in brain development.
Structure[edit | edit source]
The SASS6 protein is composed of 657 amino acids and has a molecular weight of approximately 73 kDa. It contains a coiled-coil domain, which is a common feature of structural proteins, and is thought to mediate protein-protein interactions.
References[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD