Full Name: Transcobalamin 2
Genomic Location: Chromosome 22:30,606,838-30,627,278
Protein Size: 427 amino acids
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene.
- rs1801198 is linked to TCN2, it is located in the protein coding region.
- Population frequencies are approximately 43% for the reference allele (G) and 57% for the alternate allele (C).
- Studies suggest the G allele is associated with higher homocysteine levels.