FOXL2 : forkhead box L2
The FOXL2 Gene and Its Essential Role in Growth and Development
Description
The FOXL2 gene, located on the X chromosome, carries the instructions for making a protein known as the FOXL2 transcription factor. This protein plays a crucial role in regulating gene activity by attaching to specific DNA regions and controlling their expression. One notable feature of the FOXL2 protein is its polyalanine tract, a repetitive sequence of the amino acid alanine with an unknown function.
Associated Diseases
Mutations in the FOXL2 gene have been linked to several genetic conditions, including:
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): Characterized by droopy eyelids (ptosis), narrowed eye openings (blepharophimosis), and an inward fold of skin at the inner corner of the eyes (epicanthus inversus).
- Premature ovarian failure (POF): A condition in which the ovaries stop functioning prematurely, leading to infertility.
- Granulosa cell tumors: Rare ovarian tumors that develop from cells (granulosa cells) responsible for producing female hormones.
Did you Know ?
FOXL2 mutations are responsible for approximately 80% of cases of BPES, a relatively rare condition affecting about 1 in 50,000 people worldwide.
