POU6F2, encoding two distinct isoforms, is a gene associated with multiple biological processes and diseases. In the mouse, its expression is detected in the brain, pituitary, and gonads [2]. It is also a risk factor for glaucoma, myopia, and dyslexia in humans, and labels specific populations of retinal ganglion cells [1].

In the context of disease, missense variants in POU6F2 were identified in patients with idiopathic hypogonadotropic hypogonadism (IHH), and the gene's isoform1 can act as a transcriptional regulator decreasing GNRH1 expression, with some mutations preventing this repression and potentially contributing to IHH pathogenesis [2]. In a prolactinoma patient, novel somatic mutations in POU6F2 were found, and inhibiting its activity increased cell proliferation and PRL secretion in rat pituitary cells, while overexpression had the opposite effect, suggesting POU6F2 may be crucial in prolactinoma development [3]. Additionally, in the DBA/2J mouse glaucoma model, heavily-labeled POU6F2 RGCs showed significant loss, and Pou6f2-/-mice had a loss of acuity and spatial contrast sensitivity along with RGC loss [1].

In conclusion, POU6F2 plays important roles in multiple biological processes and disease conditions. Studies on POU6F2, especially through gene knockout mouse models, have provided insights into its role in diseases like IHH, glaucoma, and prolactinoma, helping to understand the underlying mechanisms and potentially identify new therapeutic targets.