ADNP-AS1
A Deep Dive into ADNP-AS1: A Gene with Far-Reaching Implications
Description
ADNP-AS1 (Activity-Dependent Neuroprotective Protein-Antisense RNA 1) is a non-coding RNA molecule that plays a crucial role in regulating gene expression in the brain. It is located on chromosome 20q13.13 and is transcribed in the antisense direction of the ADNP gene, which encodes a protein involved in neuronal development and synaptic plasticity.
Associated Diseases
Mutations in ADNP-AS1 have been linked to a range of neurodevelopmental disorders, including:
- Kleefstra Syndrome: A rare genetic disorder characterized by intellectual disability, language impairments, and behavioral problems.
- Intellectual Disability: Individuals with mutations in ADNP-AS1 often exhibit cognitive impairment, difficulty with language and social skills, and behavioral challenges.
- Autism Spectrum Disorder (ASD): While mutations in ADNP-AS1 are not a common cause of ASD, they have been identified in some individuals with the disorder.
Did you Know ?
Approximately 1 in 40,000 individuals worldwide is affected by Kleefstra Syndrome, which is caused by mutations in either the ADNP or ADNP-AS1 gene.
