Entrez Gene ID | 259266 |
---|---|
Official Gene Symbol | ASPM (GeneCards) |
Full name | abnormal spindle microtubule assembly |
Location | 1q31.3 |
Other ids | Vega : OTTHUMG00000036277 MIM : 605481 HGNC : HGNC:19048 Ensembl : ENSG00000066279 |
Other names | ASP, MCPH5, Calmbp1 |
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] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
2431 | 259266 | ASPM | 1 | 197084957 | 197084957 | Asymptomatic | HiSeq X Ten |
29626 | 259266 | ASPM | 1 | 197073712 | 197073712 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |