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

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

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

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

‎

---

Translate: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, தமிழ், తెలుగు, Urdu, ಕನ್ನಡ, Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, বাংলা
European español, Deutsch, français, Greek, português do Brasil, polski, română, русский, Nederlands, norsk, svenska, suomi, Italian
Middle Eastern & African عربى, Turkish, Persian, Hebrew, Afrikaans, isiZulu, Kiswahili,
Other Bulgarian, Hungarian, Czech, Swedish, മലയാളം, मराठी, ਪੰਜਾਬੀ, ગુજરાતી, Portuguese, Ukrainian