Molecule (CD320) Antibody – Rabbit

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]

CD320: 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. Defects in CD320 are the cause of methylmalonic aciduria type TCblR (MMATC); also called methylmalonic aciduria due to transcobalamin receptor defect. MMATC is a metabolic disorder characterized by increased blood C3- acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. Plasma vitamin B12 and total homocysteine are normal.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 19p13.3-p13.2

Cellular Component: membrane; endoplasmic reticulum; plasma membrane; integral to membrane; endosome membrane

Molecular Function: growth factor activity; cobalamin binding

Biological Process: vitamin metabolic process; cobalamin metabolic process; regulation of vitamin metabolic process; regulation of cell growth; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria Due To Transcobalamin Receptor Defect