CD320 transports extracellular TCII:Cbl to endosome

Stable Identifier
R-HSA-3000122
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
CD320 suports endocytosis of 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. 2010). The first patient identified had only methylmalonic aciduria, subsequent patients had both this and homocystinuria. There is so far no confirmed clinical consequence of this disorder; patients have somewhat elevated MMA and homocysteine levels but no consistent additional findings.

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
Catalyst Activity
Catalyst Activity
Title
cargo receptor activity of CD320 [plasma membrane]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created
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