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ASPM

ASPM

Reviewed April 2011

What is the official name of the ASPM gene?

The official name of this gene is “asp (abnormal spindle) homolog, microcephaly associated (Drosophila).”

ASPM is the gene's official symbol. The ASPM gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ASPM gene?

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 promoting 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.

How are changes in the ASPM gene related to health conditions?

autosomal recessive primary microcephaly - caused by mutations in the ASPM gene

Mutations in the ASPM gene are the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary"). This condition is characterized by an abnormally small head and brain, intellectual disability, and delayed development. More than 80 mutations in the ASPM gene have been found to cause MCPH.

Almost all of the ASPM gene mutations responsible for MCPH reduce production of the ASPM protein. The protein that is produced is shorter than normal and is thought to be partly or wholly nonfunctional. A shortage of functional ASPM protein impairs cell division, especially in neural progenitor cells in the developing brain. As a result, fewer mature neurons are produced, and affected individuals are born with an unusually small brain. Small head size, intellectual disability, and delayed development are all consequences of the small brain size.

Because the ASPM protein is found in cells throughout the body, it is unclear why ASPM gene mutations affect neural progenitor cells more severely than other cell types. Some researchers believe that neural progenitor cells are more sensitive than other types of cells to a shortage of the ASPM protein. Other researchers have suggested that another protein may be able to compensate for the loss of the ASPM protein in cells outside the brain.

cancers - associated with the ASPM gene

The ASPM gene is upregulated in several types of cancer, which means that it produces more of the ASPM protein than usual in cancer cells. In particular, upregulation of the ASPM gene has been studied in brain tumors called gliomas and liver tumors called hepatocellular carcinomas. It is unclear why the ASPM gene is abnormally active in these cancers or what effects the extra ASPM protein may have in cancer cells. However, studies suggest that unusually high activity of the ASPM gene is related to cancer progression, spread to other parts of the body (metastasis), and recurrence.

Genetics Home Reference provides information about age-related macular degeneration, which is also associated with changes in the ASPM gene.

Where is the ASPM gene located?

Cytogenetic Location: 1q31

Molecular Location on chromosome 1: base pairs 197,084,126 to 197,146,693

The ASPM gene is located on the long (q) arm of chromosome 1 at position 31.

The ASPM gene is located on the long (q) arm of chromosome 1 at position 31.

More precisely, the ASPM gene is located from base pair 197,084,126 to base pair 197,146,693 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ASPM?

You and your healthcare professional may find the following resources about ASPM helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ASPM gene or gene products?

  • abnormal spindle-like microcephaly-associated protein
  • ASP
  • ASPM_HUMAN
  • Calmbp1
  • FLJ10517
  • FLJ10549
  • FLJ43117
  • MCPH5

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ASPM?

Asp ; autosomal ; autosomal recessive ; cancer ; cell ; cell division ; disability ; gene ; hereditary ; metastasis ; microcephaly ; progenitor cells ; progression ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: April 2011
Published: February 23, 2015