Summary
Performance
Immunogen
Application
Background
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],disease:Defects in ASPM are the cause of microcephaly primary type 5 (MCPH5) [MIM:608716]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.,function:Probable role in mitotic spindle regulation and coordination of mitotic processes (By similarity). May have a preferential role in regulating neurogenesis.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 39 IQ domains.,subcellular location:The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin.,
Research Area
