ASPM assembly factor for spindle microtubules
Gene ID: 259266, updated on 3-Nov-2024Gene type: protein coding
Also known as: ASP; MCPH5; Calmbp1
- See all available tests in GTR for this gene
- Go to complete Gene record for ASPM
- Go to Variation Viewer for ASPM variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ischemic stroke is associated with the ABO locus: the EuroCLOT study. GeneReviews: Not available | |
| Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. GeneReviews: Not available | |
| Microcephaly 5, primary, autosomal recessive | See labs |
Genomic context
- Location:
- 1q31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (197084127..197146669, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASPM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ASPM @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.