Localização subcelular: Membrane; Single-pass type I membrane protein (Potential).
Especificidade do tecido: Expressed abundantly on follicular dendritic cells (FDCs).
Envolvimento na doença: Methylmalonic aciduria type TCblR (MMATC) [MIM:613646]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Semelhança da sequência: Contains 2 LDL-receptor class A domains.C