Dynamin I Polyclonal Antibody, 100ul[BT-AP02765] PCR Series Deficiency in this enzyme has

Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures

Mutations in this gene are associated with ataxia telangiectasia| an autosomal recessive disorder

|tissue specificity:Expressed at higher levels in the embryonic lung| liver and kidney than in the heart and brain

q23) with POU2AF1/OBF1

This gene is located upstream of the Wilms tumor 1 (WT1) gene

Dynamin I Polyclonal Antibody, 100ul[BT-AP02765] PCR Series Deficiency in this enzyme hasDNM1 encodes a member of the dynamin subfamily of GTP binding proteins. Dynamin 1 possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies