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.