ASPM (gene)
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Abnormal spindle-like microcephaly-associated protein, also known as abnormal spindle protein homolog or Asp homolog, is a protein that in humans is encoded by the ASPM gene.[5] ASPM is located on chromosome 1, band q31 (1q31).[6] The ASPM gene contains 28 exons and codes for a 3477 amino‐acid‐long protein.[6] The ASPM protein is conserved across species including human, mouse, Drosophila, and C. elegans.[6] Defective forms of the ASPM gene are associated with autosomal recessive primary microcephaly.[5][7]
"ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the Drosophila melanogaster "abnormal spindle" (asp) gene. The expressed protein product of the asp gene is essential for normal mitotic spindle function in embryonic neuroblasts and regulation of neurogenesis.[6][8]
A new allele of ASPM arose sometime in the past 14,000 years (mean estimate 5,800 years), during the Holocene, it seems to have swept through much of the European and Middle-Eastern population. Although the new allele is evidently beneficial, researchers do not know what it does.[citation needed]