Forkhead box L2

Forkhead box L2 (also known as FOXL2) is a protein that in humans is encoded by the FOXL2 gene. This protein is a member of the Forkhead box family of transcription factors, which are characterized by a distinct forkhead domain. The specific function of FOXL2 has not been determined, but it is known to play a crucial role in ovarian development and function.

Function

FOXL2 is a transcription factor that is involved in ovarian development and function. It is essential for the maintenance of ovarian granulosa cells, and for the repression of testis-specific genes in the ovary. Mutations in this gene have been associated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) and premature ovarian failure 3.

Clinical significance

Mutations in the FOXL2 gene are associated with two types of genetic disorders: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) and premature ovarian failure 3. BPES is a complex eyelid malformation characterized by the triad of blepharophimosis, ptosis, and epicanthus inversus. Premature ovarian failure 3 is a condition affecting the function of the ovaries, characterized by failure of the ovaries to produce sufficient amounts of hormones and to release eggs regularly.

See also

• Forkhead box
• Transcription factor
• Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
• Premature ovarian failure

External links

• GeneCards - FOXL2

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