ASTL
Description
The ASTL gene encodes a protein involved in the assembly and function of the spliceosome, a complex machinery essential for RNA splicing. This intricate process removes non-coding regions from pre-messenger RNA, ensuring the production of functional proteins. ASTL plays a crucial role in regulating gene expression and maintaining cellular homeostasis. Disruptions in its function can lead to various developmental and disease conditions.
Associated Diseases
- Spinal Muscular Atrophy (SMA)
- Myelodysplastic syndromes (MDS)
- Acute myeloid leukemia (AML)
- Neurodevelopmental disorders
Did you know?
ASTL mutations have been linked to a rare genetic disorder called ‘Cerebro-costo-mandibular syndrome‘ characterized by craniofacial abnormalities and skeletal malformations.
