Description
Product Characteristics: The CD320 antigen gene encodes the transcobalamin receptor (TCBLR). Cellular uptake of cobalamin (vitamin B12) is mediated by receptors expressed on the cell surface. Transcobalamin II (TCN2, MIM 613441), a plasma protein secreted by endothelial cells, binds the cobalamin absorbed in the distal ileum and carries 10 to 30 % of total circulating cobalamin. CD320 encodes a transcobalamin receptor that binds TCN2-cobalamin at the plasma membrane and internalizes the complex by endocytosis (Quadros et al., 2009 [PubMed 18779389]).
Target Information: This gene 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 this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]