Aliases for ASPM Gene
External Ids for ASPM Gene
Previous HGNC Symbols for ASPM Gene
Previous GeneCards Identifiers for ASPM Gene
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]
GeneCards Summary for ASPM Gene
ASPM (Assembly Factor For Spindle Microtubules) is a Protein Coding gene. Diseases associated with ASPM include Microcephaly 5, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Gene Ontology (GO) annotations related to this gene include binding and calmodulin binding. An important paralog of this gene is EHBP1.
UniProtKB/Swiss-Prot Summary for ASPM Gene
Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis.