CD320 (CD320 Molecule) is a Protein Coding gene. Diseases associated with CD320 include Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect and Methylmalonic Acidemia Due To Transcobalamin Receptor Defect. Among its related pathways are Metabolism and HIV Life Cycle. CD320 encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in CD320 are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for CD320.
