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.
Pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism; Defective AMN causes hereditary megaloblastic anemia 1; Defective BTD causes biotidinase deficiency; Defective CD320 causes methylmalonic aciduria; Defective CUBN causes hereditary megaloblastic anemia 1; Defective GIF causes intrinsic factor deficiency; Defective HLCS causes multiple carboxylase deficiency; Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF; Defective MMAA causes methylmalonic aciduria type cblA; De
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