The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 - 2 µg/ml. Predicted molecular weight: 61 kDa.
Use at an assay dependent concentration.
Use a concentration of 5 µg/ml.
Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).
Isoform 3 is expressed in liver.
Involvement in disease
Defects in LMBRD1 are the cause of methylmalonic aciduria and homocystinuria type cblF (MMAFHC) [MIM:277380]; also known as homocystinuria-megaloblastic anemia complementation type F. MMAFHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.