DISEASES

Disease-gene associations mined from literature

Literature associating RAD21 and autosomal recessive disease

RAD21 [ENSP00000297338]

Double-strand-break repair protein rad21 homolog; Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7 during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate cytoplasmic events involved in the apoptotic pathway.

Synonyms:  RAD21,  RAD21p,  hRAD21,  A0A024R9J0,  E5RFV8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM