Recombinant Human TCblR protein (ab185405)
Key features and details
- Expression system: Mammalian
- Purity: > 95% SDS-PAGE
- Endotoxin level:
- Suitable for: HPLC, SDS-PAGE
Preparation and Storage
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Alternative names
- 8D6
- 8D6 antigen
- 8D6A
see all -
Function
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. -
Tissue specificity
Expressed abundantly on follicular dendritic cells (FDCs). -
Involvement in disease
Defects in CD320 are the cause of methylmalonic aciduria type TCblR (MMATC) [MIM:613646]; 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. -
Sequence similarities
Contains 2 LDL-receptor class A domains. -
Cellular localization
Membrane. - Information by UniProt