Primary Identifier | IPR029955 | Type | Family |
Short Name | ASPM |
description | Abnormal spindle-like microcephaly-associated protein (ASPM) is a mitotic spindle protein. In Drosophila it is known as Asp, and it is required to maintain the structure of the centrosomal microtubule organising centre (MTOC) during mitosis []. In humans it is involved in spindle organisation, spindle orientation and cytokinesis []. Mutations in the ASPM gene cause autosomal recessive primary microcephaly (MCPH), which is a rare Mendelian disorder characterised by a congenital deficiency of foetal brain growth, particularly affecting the neocortex []. |