CPSF3L
CPSF3L: A Key Player in Gene Regulation and Disease Development
Description
Cleavage and polyadenylation specificity factor 3-like 3 (CPSF3L) is an essential protein that plays a crucial role in post-transcriptional gene regulation. It forms part of the cleavage and polyadenylation (CPA) complex, which is responsible for processing RNA molecules and preparing them for protein translation. CPSF3L is involved in the selection of polyadenylation sites and the cleavage of the RNA molecule, ensuring proper termination and stability of mRNA.
Associated Diseases
Mutations in the CPSF3L gene have been linked to several genetic disorders:
- Kleefstra Syndrome: Characterized by intellectual disability, behavioral problems, and distinctive facial features.
- Microdeletion 12p13.31 Syndrome: Rare disorder involving the loss of a chromosomal region that includes the CPSF3L gene. It can cause developmental delays, cognitive impairment, and heart defects.
- Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): An autosomal recessive disorder that affects infants, causing severe muscle weakness and respiratory failure.
- Van Maldergem Syndrome: A rare condition characterized by global developmental delay, speech impairment, and hearing loss.
- Malpuech-Michelozzi Syndrome: A recently described disorder associated with severe intellectual disability, epilepsy, and distinctive facial features.
Did you Know ?
Researchers estimate that mutations in CPSF3L account for approximately 0.5% of cases of intellectual disability with an unknown genetic cause.
