Catalog

Haptocorrin deficiency

No MMS code

Link to WHO Definition

Haptocorrin deficiency – http://id.who.int/icd/entity/1005802309

Haptocorrin also known as transcobalamin-1 (TC-1), or the R-factor, is a protein that in humans is encoded by the TCN1 gene. The essential function of haptocorrin is protection of the acid-sensitive vitamin B12 while it moves through the stomach. Genomic mutations associated with mild and severe deficiencies of haptocorrin that cause mildly and severely low serum cobalamin levels due to absorption abnormalities.