ASPM Antibody – Rabbit Polyclonal

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.

ASPM: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis. Defects in ASPM are the cause of microcephaly primary type 5 (MCPH5); 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 1q31

Cellular Component: microtubule; cytoplasm; midbody; nucleus

Molecular Function: calmodulin binding

Biological Process: oogenesis; developmental growth; maintenance of centrosome localization; mitosis; positive regulation of neuroblast proliferation; negative regulation of neuron differentiation; negative regulation of asymmetric cell division; male gonad development; neuron migration; spermatogenesis; cerebral cortex development; forebrain neuroblast division

Disease: Microcephaly 5, Primary, Autosomal Recessive