KDM1A
Kdm1a: A Gene with Profound Implications for Development and Disease
Description
Kdm1a, also known as Lysine Demethylase 1A, is a gene that plays a crucial role in the regulation of gene expression. Specifically, Kdm1a modifies histone proteins by removing methyl groups from specific amino acids, thereby influencing the accessibility of DNA to transcription factors and regulating gene activity.
Associated Diseases
Mutations in the Kdm1a gene have been implicated in a range of developmental and neurological disorders, including:
- Kleefstra Syndrome: A rare genetic condition characterized by intellectual disability, speech impairments, and distinctive facial features.
- Mental Retardation, X-linked 57: A form of intellectual disability primarily affecting males.
- Autism Spectrum Disorder (ASD): Mutations in Kdm1a have been linked to a subset of ASD cases.
- Rett Syndrome: A progressive neurological disorder that affects females, causing intellectual disability, developmental regression, and seizures.
- Weaver Syndrome: A rare, overgrowth syndrome characterized by accelerated growth, tall stature, and distinctive facial features.
Did you Know ?
Approximately 1 in 40,000 individuals are affected by Kleefstra Syndrome, making it a relatively rare disorder. However, mutations in Kdm1a are thought to contribute to a broader spectrum of neurodevelopmental conditions, suggesting that its role in these disorders may be significant.
