Structural highlights
Disease
[TCO2_HUMAN] Defects in TCN2 are the cause of transcobalamin II deficiency (TCN2 deficiency) [MIM:275350]. This results in various forms of anemia. [CD320_HUMAN] Methylmalonic aciduria due to transcobalamin receptor defect. The disease is caused by mutations affecting the gene represented in this entry.
Function
[TCO2_HUMAN] Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells. [CD320_HUMAN] 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). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin.[1] [2]
References
- ↑ Zhang X, Li L, Jung J, Xiang S, Hollmann C, Choi YS. The distinct roles of T cell-derived cytokines and a novel follicular dendritic cell-signaling molecule 8D6 in germinal center-B cell differentiation. J Immunol. 2001 Jul 1;167(1):49-56. PMID:11418631
- ↑ Quadros EV, Nakayama Y, Sequeira JM. The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin. Blood. 2009 Jan 1;113(1):186-92. doi: 10.1182/blood-2008-05-158949. Epub 2008 Sep, 8. PMID:18779389 doi:http://dx.doi.org/10.1182/blood-2008-05-158949
