The FOXL2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this role, the FOXL2 protein is called a transcription factor. The protein contains one area where a protein building block (amino acid) called alanine is repeated multiple times. This stretch of alanines is known as a polyalanine tract or poly(A) tract. The function of this poly(A) tract is unknown.
The FOXL2 protein is active in multiple tissues, including the eyelids, the ovaries, and a hormone-producing gland at the base of the brain called the pituitary. It is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the FOXL2 protein regulates the growth and division (proliferation) of hormone-producing ovarian cells called granulosa cells. This protein is also involved in the breakdown of fats, steroid hormones, and potentially harmful molecules called reactive oxygen species in the ovaries. The FOXL2 protein also plays a role in controlled cell death (apoptosis) in the ovaries.
Other Names
BPES; BPES1; forkhead transcription factor FOXL2; FOXL2_HUMAN; PFRK
Related Genetics Topics
- Blepharophimosis, ptosis, and epicanthus inversus syndrome — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 668
- OMIM: 605597
- OMIM: 608996
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
