Enables small GTPase binding activity. Involved in negative regulation of cold-induced thermogenesis; nervous system development; and regulation of neurogenesis. Acts upstream of or within hematopoietic progenitor cell differentiation and pigmentation. Is active in neuromuscular junction. Is expressed in several structures, including alimentary system; lung; nervous system; placenta; and sensory organ. Used to study platelet storage pool deficiency. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 23. Orthologous to human DOCK7 (dedicator of cytokinesis 7).
MGI Description
PHENOTYPE: Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot. [provided by MGI curators]