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URL of this page: https://medlineplus.gov/genetics/gene/aspm/

ASPM gene

assembly factor for spindle microtubules

Normal Function

The ASPM gene provides instructions for making a protein that is involved in cell division. This protein is found in cells and tissues throughout the body; however, it appears to be particularly important for the division of cells in the developing brain. Studies suggest that the ASPM protein helps maintain the orderly division of early brain cells called neural progenitor cells, which ultimately give rise to mature nerve cells (neurons). By supporting the division of neural progenitor cells during early brain development, the ASPM protein helps determine the total number of neurons and the overall size of the brain.

Health Conditions Related to Genetic Changes

Autosomal recessive primary microcephaly

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the ASPM gene are the most common cause of autosomal recessive primary microcephaly. This condition is characterized by an unusually small head size (microcephaly) that is noticeable at birth or soon after. Affected individuals typically have intellectual disabilities, which can range from mild to severe. Twenty-five to 50 percent of people with autosomal recessive primary microcephaly have a pathogenic variant in the ASPM gene.

The pathogenic variants in the ASPM gene that are associated with autosomal recessive primary microcephaly cause cells to produce a version of the ASPM protein that does not function properly. This impairs the division of neural progenitor cells in the developing brain. As a result, fewer mature neurons are formed, and affected individuals are born with an unusually small brain. The smaller brain size contributes to the smaller head size and the intellectual disabilities seen in people with this condition.

Because the ASPM protein is found in cells throughout the body, it is unclear why pathogenic variants in the ASPM gene affect neural progenitor cells more severely than other cell types.

More About This Health Condition

Cancers

Several types of cancer cells produce more ASPM proteins than usual. It is unclear why the ASPM gene is abnormally active in cancer cells or what effects the extra ASPM proteins may have. However, studies suggest that the unusually high activity of the ASPM gene is related to cancer progression, the spread of cancer to other parts of the body (metastasis), and cancer recurrence.

Other Names for This Gene

  • ASP
  • Calmbp1
  • FLJ10517
  • FLJ10549

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Barbelanne M, Tsang WY. Molecular and cellular basis of autosomal recessive primary microcephaly. Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8. Citation on PubMed
  • Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct;32(2):316-20. doi: 10.1038/ng995. Epub 2002 Sep 23. Citation on PubMed
  • Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Citation on PubMed or Free article on PubMed Central
  • Fish JL, Kosodo Y, Enard W, Paabo S, Huttner WB. Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10438-10443. doi: 10.1073/pnas.0604066103. Epub 2006 Jun 23. Citation on PubMed or Free article on PubMed Central
  • Hagemann C, Anacker J, Gerngras S, Kuhnel S, Said HM, Patel R, Kammerer U, Vordermark D, Roosen K, Vince GH. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. Oncol Rep. 2008 Aug;20(2):301-8. Citation on PubMed
  • Higgins J, Midgley C, Bergh AM, Bell SM, Askham JM, Roberts E, Binns RK, Sharif SM, Bennett C, Glover DM, Woods CG, Morrison EE, Bond J. Human ASPM participates in spindle organisation, spindle orientation and cytokinesis. BMC Cell Biol. 2010 Nov 2;11:85. doi: 10.1186/1471-2121-11-85. Citation on PubMed or Free article on PubMed Central
  • Horvath S, Zhang B, Carlson M, Lu KV, Zhu S, Felciano RM, Laurance MF, Zhao W, Qi S, Chen Z, Lee Y, Scheck AC, Liau LM, Wu H, Geschwind DH, Febbo PG, Kornblum HI, Cloughesy TF, Nelson SF, Mischel PS. Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target. Proc Natl Acad Sci U S A. 2006 Nov 14;103(46):17402-7. doi: 10.1073/pnas.0608396103. Epub 2006 Nov 7. Citation on PubMed or Free article on PubMed Central
  • Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet. 2005 Aug 1;14(15):2155-65. doi: 10.1093/hmg/ddi220. Epub 2005 Jun 22. Citation on PubMed
  • Lin SY, Pan HW, Liu SH, Jeng YM, Hu FC, Peng SY, Lai PL, Hsu HC. ASPM is a novel marker for vascular invasion, early recurrence, and poor prognosis of hepatocellular carcinoma. Clin Cancer Res. 2008 Aug 1;14(15):4814-20. doi: 10.1158/1078-0432.CCR-07-5262. Citation on PubMed
  • Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr;46(4):249-53. doi: 10.1136/jmg.2008.062380. Epub 2008 Nov 21. Citation on PubMed or Free article on PubMed Central
  • Tsai KK, Bae BI, Hsu CC, Cheng LH, Shaked Y. Oncogenic ASPM Is a Regulatory Hub of Developmental and Stemness Signaling in Cancers. Cancer Res. 2023 Sep 15;83(18):2993-3000. doi: 10.1158/0008-5472.CAN-23-0158. Citation on PubMed
  • Verloes A, Drunat S, Passemard S. ASPM Primary Microcephaly. 2020 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK555474/ Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.