• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. ASPM

ASPM (Abnormal spindle microtubule assembly)

Loading...

The Function of ASPM

Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.

0 users want this gene increased, 0 users want it decreased

Protein names

Recommended name:

Abnormal spindle-like microcephaly-associated protein

Alternative name(s):

Abnormal spindle protein homolog
Asp homolog

ASPM SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS10922162 (ASPM) ??
  2. RS3762271 (ASPM) ??
  3. RS964201 (ASPM) ??

Top Gene-Substance Interactions

ASPM Interacts with These Diseases

Disease Score

Substances That Increase ASPM

Substances Interaction Organism Category

Substances That Decrease ASPM

Substances Interaction Organism Category

Advanced Summary

     age-related macular degeneration Genetics Home Reference provides information about age-related macular degeneration. autosomal recessive primary microcephaly 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 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.

     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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-alpha
  • Nkx2-2
  • Meis-1
  • Cdc5
  • Meis-1b
  • FOXL1

Biological Processes:

  • Cerebral Cortex Development
  • Developmental Growth
  • Forebrain Neuroblast Division
  • Maintenance Of Centrosome Location
  • Male Gonad Development
  • Mitotic Nuclear Division
  • Negative Regulation Of Asymmetric Cell Division
  • Negative Regulation Of Neuron Differentiation
  • Neuronal Stem Cell Population Maintenance
  • Neuron Migration
  • Oogenesis
  • Positive Regulation Of Canonical Wnt Signaling Pathway
  • Positive Regulation Of Neuroblast Proliferation
  • Regulation Of Meiotic Cell Cycle
  • Spermatogenesis
  • Spindle Assembly Involved In Meiosis
  • Spindle Localization
  • Spindle Organization
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| ASP| abnormal spindle-like microcephaly-associated| Abnormal spindle-like microcephaly-associated protein| Abnormal spindle-like microcephaly-associated protein homolog| Abnormal spindle-like microcephaly-associated protein-like| Abnormal spindle-like microcephaly-associated protein like protein| Abnormal spindle-like microcephaly-associated protein-like protein| Abnormal spindle-like microcephaly-associated protein-like protein-like protein| abnormal spindle-like microcephaly protein| abnormal spindles| asp (abnormal spindle) homolog, microcephaly associated| asp (abnormal spindle) homolog, microcephaly associated (Drosoph| asp (abnormal spindle) homolog, microcephaly associated (Drosophila)| asp (abnormal spindle)-like, microcephaly associated| asp (abnormal spindle)-like, microcephaly associated (Drosophila)| asp (abnormal spindle)-like, microcephaly associated-like protein| asp (abnormal spindle)-like protein, microcephaly associated| asp-like protein, microcephaly associated| Calmbp1| calmodulin binding protein 1| calmodulin-binding protein 1| calmodulin-binding protein Sha1| CB1_001441012| D623_10008234| fc13b04| GW7_21548| H920_10010| I79_011753| M959_05863| MCPH5| MDA_GLEAN10008017| PAL_GLEAN10003826| Sha1| SNCA| spindle and hydroxyurea checkpoint abnormal protein| synuclein, alpha (non A4 component of amyloid precursor)| UY3_10643| Y1Q_013191| aspm

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved