ADNP Kids Research Foundation
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ADNP GENE

ACTIVITY DEPENDENT NEUROPROTECTIVE PROTEIN
ADNP GENE

ADNP stands for Activity-Dependent Neuroprotective Protein and is a gene discovered at the laboratory of Professor Illana Gozes at Tel Aviv University. It is a gene coding for a protein that provides protection for nerve cells against electrical blockade ( = protection against inability of nerve cells to communicate electrically).

The Gozes Laboratory discovered that ADNP is crucial for brain formation and complete ADNP gene deficiency in mice results in inability to form a brain. During embryonic development, ADNP regulates over 400 other genes crucial for brain formation and organ development. Among the genes regulated by ADNP are also muscle genes, meaning that not only the brain is affected by ADNP, but also muscles which may lead to heart and motor defects. Other systems are affected as well, including the immune system.

OMIM additionally describes:

Gene Function
Zamostiano et al. (2001) found that downregulation of ADNP by antisense oligonucleotides upregulated p53 (TP53; 191170) and reduced the viability of intestinal cancer cells by 90%. They proposed that ADNP is involved in maintaining cell survival, possibly by modulating p53.

Gene Structure
Zamostiano et al. (2001) determined that the ADNP gene contains 5 exons and spans 40.6 kb. The last 3 exons are translated (Helsmoortel et al., 2014).

Mapping
Using FISH, Zamostiano et al. (2001) mapped the ADNP gene to chromosome 20q12-q13.2, a region frequently amplified in neoplasias and associated with aggressive tumor growth.


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All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.   Any information used from this website must also have credit noted to ADNP Kids Research Foundation / www.adnpfoundation.org. The information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.
  • About Us
    • Our Mission Our Vision Our Goal >
      • 501(c)(3) Determination
    • Board of Directors
    • Medical and Scientific Advisory Board
  • WHAT IS ADNP
    • Newly Diagnosed
    • ADNP Syndrome Full Description
    • ADNP GENE
    • Phenotype/Symptoms List
  • Connect
    • Contact Registry
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • RESEARCH
    • TREATMENT RESEARCH & DEVELOPMENT UPDATES
    • Seaver Autism Center
    • Ketamine Trial Phase 2
    • publications
  • NEWS
    • NET Collaboration Study
    • Glimpse of Hope For ADNP Patients
    • ketamine
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
  • DONATE/SUPPORT
    • WARRIOR FUN RUN >
      • WARRIOR FUN RUN PHOTO RELEASE