6z4a
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proteopedia linkproteopedia linkStructure of the human SAS-6 N-terminal domain, F131E mutant
Structural highlights
DiseaseSAS6_HUMAN Autosomal recessive primary microcephaly. The disease is caused by variants affecting the gene represented in this entry. FunctionSAS6_HUMAN Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).[1] [2] [3] [4] References
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