ADNP gene

activity dependent neuroprotector homeobox

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.

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.

Cytogenetic Location: 20q13.13, which is the long (q) arm of chromosome 20 at position 13.13

Molecular Location: base pairs 50,888,918 to 50,934,984 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.13, which is the long (q) arm of chromosome 20 at position 13.13
  • activity-dependent neuroprotective protein
  • activity-dependent neuroprotector
  • activity-dependent neuroprotector homeobox protein
  • ADNP homeobox 1
  • ADNP1
  • KIAA0784
  • MRD28