Recombinant Human RecQ-mediated genome instability protein 2 (RMI2)

Uniprot Id

Q96E14

Target Species

Human

Target Name

RMI2

Target Full Name

RecQ-mediated genome instability protein 2

Target Function

Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.

Target Involvement

A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks.

Target Subcellular Location

Nucleus. Note=Colocalizes with BLM at nuclear DNA repair foci.

Target Protein Families

RMI2 family

Target Synonyms

BLAP18; BLM-associated protein of 18 kDa; C16orf75; hRMI2; MGC24665; RecQ-mediated genome instability protein 2; RMI2; RMI2_HUMAN

Target Background

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).