PRR12 (proline rich 12) functions as a regulator of cohesin complex activity and genome integrity maintenance. The protein interacts with NIPBL/MAU2 and the cohesin complex, playing a role in cohesin localization to chr19 1. Loss of PRR12 results in reduced cohesin localization and substantially increased DNA double-strand breaks, while PRR12 co-localizes with NIPBL to sites of DNA damage in a NIPBL and cohesin-dependent manner 1. PRR12 haploinsufficiency causes a neurodevelopmental disorder characterized by intellectual disability, structural eye defects (including anophthalmia, microphthalmia, colobomas), hypotonia, heart defects, growth failure, and kidney anomalies 2. The gene shows high evolutionary conservation in DNA-interacting domains and exhibits distinct expression patterns during development, with enrichment in the central nervous system and retinal ganglion cell layers 3. Genome-wide association studies have identified PRR12 variants associated with sleep duration regulation 4 and immune-mediated inflammatory diseases 5. Clinical presentations range from isolated ocular abnormalities to complex multisystem disorders, with notable asymmetric or unilateral eye phenotypes 6. The protein's role in maintaining genomic stability through cohesin regulation likely underlies its diverse developmental functions.