CLH2 Rabbit Polyclonal Antibody, 100ul Recombinant Protein Expression Mutations in this gene result

Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis

This gene encodes a member of the peptidase A1 family of aspartic proteases

Arg-19 and Arg-25 are dimethylated

or histamine

most of which utilize a serine nucleophile to form the G-X-S-X-G nucleophile elbow

CLH2 Rabbit Polyclonal Antibody, 100ul Recombinant Protein Expression Mutations in this gene resultThis gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma DiGeorge syndrome and velo cardio facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.