Aliases for CD320 Gene
External Ids for CD320 Gene
Previous GeneCards Identifiers for CD320 Gene
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]
GeneCards Summary for CD320 Gene
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 of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include growth factor activity and cobalamin binding. An important paralog of this gene is LDLRAD2.
UniProtKB/Swiss-Prot for CD320 Gene
Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).