TRFM Polyclonal Antibody, 100ul Antibody Humanization Mutations in this gene are

Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR)

and the recently identified phosphoprotein PHAX (phosphorylated adaptor for RNA export)

Overexpression of the encoded protein (cathepsin B) has been associated with esophageal adenocarcinoma and other tumors

as well as in genotoxic stress response

Several alternatively spliced transcript variants encoding four distinct isoforms have been reported

TRFM Polyclonal Antibody, 100ul Antibody Humanization Mutations in this gene areThe protein encoded by this gene is a cell surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants.