LAMTOR2
LAMTOR2: An Essential Gene Implicated in Human Health
Description
LAMTOR2, also known as late endosomal/lysosomal adaptor, MAPK and MTOR activator 2, is a gene that encodes a protein of the same name. This protein is essential for the proper function of the lysosome, a specialized organelle in cells that is responsible for breaking down and recycling cellular components. LAMTOR2 plays a crucial role in nutrient sensing and signalling pathways, particularly the mammalian target of rapamycin (mTOR) pathway, which regulates cell growth and metabolism.
Associated Diseases
Mutations in the LAMTOR2 gene have been linked to a number of human diseases, including:
- Hereditary Cataracts: Mutations in LAMTOR2 can lead to the development of cataracts, a clouding of the lens of the eye, at a young age.
- Neurological Disorders: Mutations in LAMTOR2 have been associated with neurological disorders such as epilepsy, microcephaly (abnormally small head size), and developmental delay.
- Cancer: LAMTOR2 mutations have been implicated in the development of certain types of cancer, including lung cancer and leukemia.
Did you Know ?
A study published in the journal Nature Genetics found that variants in the LAMTOR2 gene are present in approximately 1 in 1000 individuals in the general population. This suggests that LAMTOR2 mutations may be a significant contributing factor to a variety of human health conditions.
