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ADNP gene

activity dependent neuroprotector homeobox
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Normal Function

The ADNP gene provides instructions for making a protein that helps control the activity (expression) of other genes through a process called chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. As part of the remodeling process, the ADNP protein attaches to DNA and interacts with groups of proteins called SWI/SNF complexes, which direct changes in the structure of chromatin.

By regulating gene expression, the ADNP protein is involved in many aspects of development. It is particularly important for regulation of genes involved in normal brain development, and it likely controls the activity of genes that direct the development and function of other body systems.

Health Conditions Related to Genetic Changes

ADNP syndrome

At least 22 ADNP gene mutations have been found to cause ADNP syndrome. This condition features intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interactions. Affected individuals can also have distinctive facial features and a wide variety of other signs and symptoms. Most ADNP gene mutations are thought to lead to the production of an abnormally short ADNP protein. Although it is unclear how these genetic changes cause ADNP syndrome, researchers speculate that the abnormally short protein can attach to DNA but cannot interact with SWI/SNF complexes. As a result, chromatin remodeling is impaired. Disturbance of this process alters the activity of many genes and disrupts the development or function of several of the body's tissues and organs, including the brain. These changes likely explain the intellectual disability, autism spectrum disorder, and other diverse signs and symptoms of ADNP syndrome.

More About This Health Condition

Autism spectrum disorder

MedlinePlus Genetics provides information about Autism spectrum disorder

More About This Health Condition

Other Names for This Gene

  • activity-dependent neuroprotective protein
  • activity-dependent neuroprotector
  • activity-dependent neuroprotector homeobox protein
  • ADNP homeobox 1
  • ADNP1
  • HVDAS
  • KIAA0784
  • MRD28

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, AnnerĂ©n G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Citation on PubMed or Free article on PubMed Central
  • Malishkevich A, Leyk J, Goldbaum O, Richter-Landsberg C, Gozes I. ADNP/ADNP2 expression in oligodendrocytes: implication for myelin-related neurodevelopment. J Mol Neurosci. 2015 Oct;57(2):304-13. doi: 10.1007/s12031-015-0640-4. Citation on PubMed
  • Mandel S, Rechavi G, Gozes I. Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev Biol. 2007 Mar 15;303(2):814-24. Epub 2006 Dec 1. Citation on PubMed
  • Mandel S, Spivak-Pohis I, Gozes I. ADNP differential nucleus/cytoplasm localization in neurons suggests multiple roles in neuronal differentiation and maintenance. J Mol Neurosci. 2008 Jun;35(2):127-41. doi: 10.1007/s12031-007-9013-y. Epub 2008 Feb 20. Citation on PubMed
  • Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26. doi: 10.1002/ajmg.c.31413. Epub 2014 Aug 28. Citation on PubMed or Free article on PubMed Central
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