Gene Symbol | ASPM |
Entrez Gene ID | 259266 |
Full Name | abnormal spindle microtubule assembly |
Synonyms | ASP,Calmbp1,MCPH5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 5, primary, autosomal recessive, 608716 (3) |