LOC101929340
Loc101929340: A Comprehensive Guide
Description
Loc101929340 is a protein-coding gene located on chromosome 11 in humans. It encodes a protein known as MICAL3 (Microtubule-Associated Coiled-Coil Domain-Containing Protein 3), which plays a crucial role in regulating microtubule dynamics and cellular trafficking. Microtubules are essential for various cellular processes, including cell division, cell shape maintenance, and organelle transport.
Associated Diseases
Disruptions or mutations in the loc101929340 gene have been linked to several human diseases, including:
- Polycystic Liver Disease (PLD): PLD is a genetic disorder characterized by the formation of multiple cysts in the liver. Mutations in loc101929340 have been identified as a common cause of PLD, particularly in children.
- Congenital Heart Defects (CHDs): CHDs are a group of structural abnormalities that affect the heart and blood vessels. Studies have shown that mutations in loc101929340 can increase the risk of developing CHDs, especially certain types of atrial septal defects.
- Autism Spectrum Disorder (ASD): ASD is a neurodevelopmental disorder that affects social interaction, communication, and repetitive behaviors. Research suggests that rare variants in loc101929340 may be associated with an increased risk of ASD.
Did you Know ?
- Mutations in loc101929340 account for approximately 10-15% of cases of Polycystic Liver Disease in the pediatric population.
