Defective CD320 does not transport extracellular TCII:Cbl to endosome

Stable Identifier
R-HSA-3325546
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, endosome membrane, endosome
ReviewStatus
5/5
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Defective CD320 does not transport extracellular TCII:Cbl to endosome
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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
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
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
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
Input
Participates
as an event of
Normal reaction
CD320 binds extracellular TCN2:RCbl (Homo sapiens)
Functional status

Loss of function of CD320 E88del [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
methylmalonic acidemia DOID: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
Cross References
Mondo
Authored
Jassal, B  (2013-05-10)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-05-10)
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