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ASPM

MIM.605481 1q31

Monday 20 June 2005

The ASPM gene is the human ortholog of the Drosophila melanogaster ’abnormal spindle’ gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. The mouse gene Aspm is expressed specifically in the primary sites of prenatal cerebral cortical neurogenesis.

Pathology

- primary autosomal recessive microcephaly (MIM.608716)