POU6F2, a gene with potential significance in multiple biological processes and diseases, encodes two distinct isoforms. While the function of isoform2 has been verified as a transcription factor, isoform1 has been found to act as a transcriptional regulator, decreasing GNRH1 expression in GnRH cells [2]. POU6F2 is also associated with fatty acid metabolism, as its antisense lncRNA POU6F2-AS1 promotes lipogenesis in colorectal cancer [1]. Additionally, it is a risk factor for conditions like glaucoma, myopia, and dyslexia, labeling specific populations of retinal ganglion cells [3].

In humans with pubertal failure, mutations in POU6F2 can alter GnRH transcript expression, disrupting normal GnRH cell migration [2]. In colorectal cancer, the lncRNA POU6F2-AS1, regulated by METTL3-induced m6A modification, promotes cancer cell growth and lipogenesis by upregulating FASN [1]. In the context of glaucoma, myopia, and dyslexia, POU6F2-positive retinal ganglion cells in mice are sensitive to damage from elevated intraocular pressure, and Pou6f2-/-mice experience a loss of acuity and spatial contrast sensitivity [3].

In conclusion, POU6F2 plays diverse roles in biological processes such as pubertal development, fatty acid metabolism, and vision-related functions. Research on POU6F2, especially through model-based studies like the Pou6f2-/-mouse model, has provided insights into its contribution to diseases including pubertal failure, colorectal cancer, and conditions related to the eye [1,2,3].