KLHL13 Monoclonal Antibody, 100ul Aspirating Pipets The gene is deleted in

The gene is deleted in Williams-Beuren syndrome| a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11

providing high transparency that facilitates easy observation

An important paralog of this gene is RBBP4

The various isoforms have functional differences| with respect to ARF GAP activity and to G

The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo

KLHL13 Monoclonal Antibody, 100ul Aspirating Pipets The gene is deleted inThis gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3 based E3 ubiquitin protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants.