(Isoform L), EC 3.5.4.6, SPG63, AMP Deaminase Isoform L, AMP Deaminase 2, AMPD Isoform L, AMPD, PCH9, AMP deaminase 2.
(Isoform L), EC 3.5.4.6, SPG63, AMP Deaminase Isoform L, AMP Deaminase 2, AMPD Isoform L, AMPD, PCH9, AMP deaminase 2.
Recombinant AMPD2 refers to the AMPD2 protein that has been produced using recombinant DNA technology. This involves inserting the AMPD2 gene into an expression system, such as Escherichia coli, to produce the protein in large quantities . The recombinant protein is often tagged with a His-tag at the N-terminus to facilitate purification and is typically used in research to study the enzyme’s structure, function, and potential therapeutic applications .
Mutations in the AMPD2 gene have been associated with several neurological disorders, including pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia type 63 (SPG63). These conditions are characterized by structural defects in the brain, delayed psychomotor development, and progressive weakness and spasticity of the lower limbs .