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Beschreibung

Spindle assembly abnormal protein 6 homolog (UniProt: Q6UVJ0, also known as HsSAS-6) is encoded by the SASS6 (also known as SAS6) gene (Gene ID: 163786) in human. HsSAS-6 is a central scaffolding component of the centrioles that ensure their 9-fold symmetry. It functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle. It is required for centrosome biogenesis and duplication and is essential for both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multi-ciliated cells. It contains a 35 nM long coiled-coil domain that mediates homodimerization while the globular N-terminus links the dimers at an angle of 40 degrees to form the inner ring. Over-expression of SASS6 gene results in excess foci-bearing centriolar markers. Mutations in SASS6 are known to cause microcephaly 14 that is characterized by small head circumference, markedly reduced brain weight and disproportionately small cerebral cortex.