SASH3 Polyclonal Antibody, 100ul Reagent Reservoirs Mutations in this gene have

Mutations in this gene have been associated with geroderma osteodysplastica

Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter

is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton

but this phenotype is not causally related to neurologic disease

SASH3 Polyclonal Antibody, 100ul Reagent Reservoirs Mutations in this gene haveThe protein encoded by this gene contains a Src homology 3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.