டவுன் சிண்ட்ரோம் & குரோமோசோம் அசாதாரணங்களின் ஜர்னல்
திறந்த அணுகல்

சுருக்கம்

Human MMS21, also known as NSMCE2, Has New Functions in Development and Disease

Jennifer Grove

The transmission of entire genetic information by progeny cells requires chromosomal integrity during cell division. Errors in the systems that keep genomic stability during cell division can cause chromosomal aberrations during gametogenesis and development, which can show as disease phenotypes. Protein complexes involved in the structural maintenance of chromosomes (SMC) perform an important role. The Smc5/6 complex is required for chromosomal integrity, viability, and the repair of DNA double strand breaks and collapsed replication forks. This brief review focuses on hMMS21/NSMCE2, the human homolog of MMS21/NSE2, a non-smc component of the Smc5/6 complex with SUMO E3 ligase activity, and attempts to shed light on the function of hMMS21/NSMCE2 in human development and illness associated with NSMCE2 loss.