ASPM Chromosome 1
Assembly factor for spindle microtubules
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What This Gene Does
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 (19)
Inborn genetic diseases
Microcephaly 5
primary
autosomal recessive
ASPM-related disorder
Malignant tumor of esophagus
Gastric cancer
Cervical cancer
Clear cell carcinoma of kidney
Familial cancer of breast
Autosomal recessive primary microcephaly
Intellectual disability
Microcephaly
Microcephaly 1
Abnormality of the nervous system
See cases
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Lissencephaly
Key Variants
RS1057523023
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112113370
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS112946633
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS113777932
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS115594989
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS117668001
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS117963393
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS118010078
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS1183851640
Conflicting classifications of pathogenicity
Health Risk
RS12025066
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
RS137890991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Microcephaly 5, primary
Health Risk
RS138138436
Conflicting classifications of pathogenicity
Microcephaly 5, primary, autosomal recessive
Health Risk
All Variants (458)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748529285 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS765275884 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS769364943 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS769818500 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS771583813 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS774143329 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |
| RS886041709 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Microcephaly 5 |
| RS933106143 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 5, primary, autosomal recessive |