Proline-rich protein 12 (PRR12)

Proline-rich protein 12 (PRR12) is a large, proline- and glycine-rich, nuclear protein encoded by the PRR12 gene located on chromosome 19q13.33[1][3][5]. It contains two conserved A-T hook DNA binding domains and is thought to act as a transcriptional cofactor due to its nuclear localization and DNA-binding capacity[3][4][5]. PRR12 is highly expressed in neuronal tissues and developing eye, and its loss-of-function (haploinsufficiency) is linked to a spectrum of neurodevelopmental, ocular, and multisystem abnormalities, collectively referred to as neuroocular syndrome (NOC)[2][4]. Clinical features associated with PRR12 mutations include intellectual disability, developmental delay, structural eye defects (such as microphthalmia, anophthalmia, iris coloboma, and Peters anomaly), as well as cardiac and renal anomalies[3][4]. The protein appears to be essential for normal brain and eye development, but its full molecular function and pathways remain under investigation. There are currently no known drugs targeting PRR12, and it is not recognized as a therapeutic target in disease contexts[3][5].

Other names

Proline rich 12KIAA1205NOCProline-rich 12PRR12