Defective CD320 does not transport extracellular TCII:Cbl to endosome

Stable Identifier
R-HSA-3325546
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The ubiquitously-expressed CD320 antigen (CD320 aka transcobalamin receptor, TCblR) internalises TCII:Cbl by endocytosis after binding to it (Quadros et al. 2009, Quadros et al. 2005). Defects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646). Quadros et al. identified a homozygous single codon deletion, c.262_264GAG, resulting in the loss of a glutamic acid residue at position 88 in the low-density lipoprotein receptor type A-like domain leading to elevated methylmalonic acid (MMA) in newborns (Quadros et al. 2010).

Literature References
PubMed ID Title Journal Year
18779389 The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin

Quadros, EV, Nakayama, Y, Sequeira, JM

Blood 2009
15652495 The binding properties of the human receptor for the cellular uptake of vitamin B12

Quadros, EV, Nakayama, Y, Sequeira, JM

Biochem. Biophys. Res. Commun. 2005
20524213 Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)

Quadros, EV, Lai, SC, Nakayama, Y, Sequeira, JM, Hannibal, L, Wang, S, Jacobsen, DW, Fedosov, S, Wright, E, Gallagher, RC, Anastasio, N, Watkins, D, Rosenblatt, DS

Hum. Mutat. 2010
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
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