FOXL2 (OMIM 605597) is a transcription factor belonging to the forkhead box (FOX) superfamily, characterized by the forkhead box/winged-helix DNA-binding domain. FOXL2 plays an important role in ovarian development and function. [6]

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.

2024年12月25日 · FOXL2 (Forkhead Box L2) is a Protein Coding gene. Diseases associated with FOXL2 include Blepharophimosis, Ptosis, And Epicanthus Inversus and Premature Ovarian Failure 3. Among its related pathways are Transport of the SLBP independent Mature mRNA and Metabolism of proteins.

The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in …

2009年6月25日 · All four index GCTs had a missense point mutation, 402C→G (C134W), in FOXL2, a gene encoding a transcription factor known to be critical for granulosa-cell development. The FOXL2 mutation was...

Foxl2 is a forkhead transcription factor essential for proper reproductive function in females. Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian …

FOXL2 is a gene encoding a forkhead transcription factor, whose mutations are responsible for the blepharophimosis-ptosis-epicanthus inversus syndrome that often involves premature ovarian failure.

2014年2月1日 · Forkhead box L2 (FOXL2) is a gene encoding a forkhead transcription factor preferentially expressed in the ovary, the eyelids and the pituitary gland. Its germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome, which includes eyelid and mild craniofacial defects associated with primary ovarian insufficiency.

2025年2月20日 · Forkhead box protein L2 (FOXL2) is one of the earliest ovarian differentiation markers and transcription factors. In sex determination, FOXL2 maintains the differentiation of the female pathway by inhibiting male differentiation genes, including SOX9 and SF1.

2024年2月12日 · Clinical resource with information about FOXL2, A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population., Blepharophimosis, ptosis, and epicanthus inversus syndrome, Premature ovarian failure 3, and available tests.