NCBI Summary:
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
General function
Ligand, Growth factor
Comment
Cellular localization
Secreted
Comment
Ovarian function
Comment
Expression regulated by
Comment
Polycystic ovary syndrome (PCOS) affects 5% of reproductive aged women and is the leading cause of anovulatory infertility. A hallmark of PCOS is excessive theca cell androgen secretion, which is directly linked to the symptoms of PCOS. Our previous studies demonstrated that theca cells from PCOS ovaries maintained in long term culture persistently secrete significantly greater amounts of androgens than normal theca cells, suggesting an intrinsic abnormality. Furthermore, previous studies suggested that ovarian hyperandrogenemia is inherited as an autosomal dominant trait. However, the genes responsible for ovarian hyperandrogenemia of PCOS have not been identified. In this present study, Wood JR, et al carried out microarray analysis to define the gene networks involved in excess androgen synthesis by the PCOS theca cells in order to identify candidate PCOS genes. Analysis revealed that PCOS theca cells have a gene expression profile that is distinct from normal theca cells. Included in the cohort of genes with increased mRNA abundance in PCOS theca cells were aldehyde dehydrogenase 6 and retinol dehydrogenase 2, which play a role in all-trans-retinoic acid biosynthesis and the transcription factor GATA6. We demonstrated that retinoic acid and GATA6 increased the expression of 17alpha-hydroxylase, providing a functional link between altered gene expression and intrinsic abnormalities in PCOS theca cells. Thus, the analyses have 1) defined a stable molecular phenotype of PCOS theca cells, 2) suggested new mechanisms for excess androgen synthesis by PCOS theca cells, and 3) identified new candidate genes that may be involved in the genetic etiology of PCOS. This is one of the genes with Altered mRNA Abundance in PCOS Theca Cells as compared with normal theca cells Maintained Under Basal Conditions.
Ovarian localization
Theca, Follicular Fluid
Comment
Intrafollicular fibroblast growth factor 13 in polycystic ovary syndrome: relationship with androgen levels and oocyte developmental competence. Liu Y et al. (2018) Fibroblast growth factor 13 (FGF13) is one of the most highly expressed FGF family members in adult mouse ovary. However, its precise roles in ovarian function remain largely unknown. We sought to evaluate the associations between FGF13 in follicular fluid and oocyte developmental competence in patients with polycystic ovary syndrome (PCOS). A cross-sectional study was conducted on 43 patients with PCOS and 32 non-PCOS patients who underwent in vitro fertilization/intracytoplasmic sperm injection treatments. The highest quartiles of follicular fluid (FF)-FGF13 (≥117.51 pg/mL) and FF-total testosterone (FF-TT) (≥51.90 nmol/L) were defined as "elevated" FF-FGF13 levels and "elevated" FF-TT levels, respectively. The levels of FF-FGF13 were skewed, with a median of 82.97 pg/mL (59.79-117.51 pg/mL) in 75 patients. The prevalence of elevated FF-TT levels was significantly higher in the PCOS patients with elevated FF-FGF13 levels than in those without (64.3% vs. 35.7%, adjusted P = 0.0096). FF-TT and increased ovarian volume (> 10 mL for one or both ovaries) were positively correlated with FF-FGF13 in PCOS patients (r = 0.37, P = 0.013; r = 0.33, P = 0.032). A negative association was evident between FF-FGF13 and the MII oocyte rate in the multiple linear regression analysis (β = - 0.10, SE = 0.045, adjusted P = 0.027). However, the associations were not evident in the non-PCOS patients. Our study suggests the presence of intrafollicular FGF13 in PCOS patients and implies that FGF13 might be involved in the pathophysiological process of PCOS.//////////////////