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For Research Use Only. Not For Clinical Use.


Background

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]
Protein class

Disease related genes, Human disease related genes

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Kupffer cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (A549, T-47d)

Interaction

Binds TFR through the extracellular domain in a pH-dependent manner.

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