Gene: RAD21

Alternate names for this Gene: CDLS4|HR21|HRAD21|MCD1|MGS|NXP1|SCC1|hHR21

Gene Summary: The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.11

Description of this Gene: RAD21 cohesin complex component

Type of Gene: protein-coding

rs1563687901 in RAD21 gene and CORNELIA DE LANGE SYNDROME 4 PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 22633399 2012 RAD21 mutations cause a human cohesinopathy.