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  • 發布時間:2022-07-25 10:52 原文鏈接: ASPM基因突變與藥物因子介紹

    該基因是果蠅“紡錘體異常”基因(asp)的人類同源基因,對胚胎神經母細胞的正常有絲分裂紡錘體功能至關重要在小鼠中的研究也表明該基因在有絲分裂紡錘體調控中的作用,在調節神經發生中具有優先作用。該基因突變與小頭畸形原發性5型相關。已發現該基因編碼不同亞型的多個轉錄變體。[由RefSeq提供,2011年5月]
    This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

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