rs759013995
This variant is located in the TFR2 gene.
▶ClinVar annotation
About TFR2
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
View all TFR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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