Visual system homeobox 1 (VSX1)

Visual system homeobox 1 (VSX1) is a paired-like homeodomain transcription factor involved in retinal development, particularly in the regulation of cone opsin gene expression and terminal differentiation of specific retinal bipolar cells[1][2][5][7]. It binds DNA at the locus control region of the red/green cone opsin gene cluster and acts primarily as a transcriptional repressor[1][2]. VSX1 is implicated in the pathogenesis of several corneal disorders, including keratoconus and posterior polymorphous corneal dystrophy, with disease-causing mutations following an autosomal dominant inheritance with variable expressivity[1][2][4][5]. No small molecule drugs or targeted therapies currently modulate VSX1 activity in clinical use, but genetic testing for VSX1 mutations serves as a biomarker for at-risk individuals, particularly in the context of corneal dystrophies and keratoconus[4][5].

Other names

RINXPPDPPCD1Homeodomain protein RINXRetinal inner nuclear layer homeobox proteinTranscription factor VSX1CAASDSKTCNKTCN1PPCDCHX10-like