SLC13A3 expression has been shown to be regulated by the transcription factor paired-like homeodomain transcription factor 2 (PITX2) in ocular cells and was suggested to be important in the inborn metabolic disease Axenfeld-Rieger syndrome type 1 (ARS1), an autosomal dominant disorder of morphogenesis. Here, PITX2 is linked to Axenfeld-Rieger syndrome type 1.