FLJ41200
Description
FLJ41200, also known as CAPSL, is a gene located on the long arm of chromosome 16. It encodes a protein that plays a crucial role in the formation and function of the eye lens. Mutations in the FLJ41200 gene can lead to a variety of eye disorders, including cataracts and glaucoma.
Associated Diseases
- Cataracts: Cataracts are a clouding of the eye's natural lens, which can lead to impaired vision. FLJ41200 mutations are one of the most common genetic causes of cataracts in children.
- Glaucoma: Glaucoma is a group of eye diseases that damage the optic nerve, which connects the eye to the brain. FLJ41200 mutations have been linked to an increased risk of developing glaucoma.
- Microphthalmia: Microphthalmia is a condition in which the eye is abnormally small. FLJ41200 mutations can cause microphthalmia as part of a syndrome called CATSHL syndrome, which also includes cataracts, aniridia (absence of the iris), and sometimes heart defects.
Did you Know ?
FLJ41200 mutations are responsible for approximately 5% of all cases of cataracts in children.
