FIGLA
MIM.608697
The mouse basic helix-loop-helix transcription factor Figla is required for normal folliculogenesis.
The predicted FIGLA protein contains 186 amino acids and shares 68% identity with mouse Figla and 25% identity with a putative medaka homolog. The basic helix-loop-helix region of FIGLA shares 96% and 57% identity with those of mouse and medaka Figla, respectively.
RT-PCR showed expression of FIGLA in all ovarian follicular stages and in mature oocytes, with less frequent expression in preimplantation embryos. RT-PCR of multiple tissue samples detected FIGLA expression only in primordial follicles.
Pathology
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility. (#18499083#)
References
Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A. Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure. Am J Hum Genet. 2008 May 20. PMID: #18499083#