ASPM (Entrez ID: 259266)

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]

Variants

Found 2 variants in this database.