ADNP : activity dependent neuroprotector homeobox
Delving into the ADNP Gene: Unraveling Its Role in Development
Description
The ADNP gene resides on chromosome 20 and holds the blueprint for producing a protein crucial for gene regulation, a process known as chromatin remodeling. Chromatin, the structural framework of DNA, undergoes modifications in its tightness, influencing gene expression. As part of this remodeling, the ADNP protein binds to DNA and associates with SWI/SNF protein complexes, initiating chromatin structural alterations.
Associated Diseases
Mutations in the ADNP gene have been linked to several developmental disorders, including:
- Coffin-Siris Syndrome: Characterized by distinctive facial features, intellectual disability, and growth abnormalities.
- Microcephaly: A brain size smaller than expected, often associated with developmental delays.
- Anophthalmia-Microphthalmia Spectrum: A range of eye malformations, from complete absence to abnormally small eyes.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by Coffin-Siris Syndrome, highlighting the rarity of ADNP-related disorders.
