disease:Defects in ROBLD3 are the cause of immunodeficiency due to defect in MAPBP-interacting protein [MIM:610798]. This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.,function:Adapter protein that enhances the efficiency of the MAP kinase cascade. Facilitates the activation of MAPK2.,online information:ROBLD3 mutation db,similarity:Belongs to the GAMAD family.,subunit:Heterodimer with MAP2K1IP1. Interacts with MAPK1 and MAP2K1.,
Late endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side .
Lung,Umbilical cord blood,
下载说明书
