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Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619049

PubChem

R-HSA-5619049

Description

SLC40A1 (MTP1 aka ferroportin or IREG1) is highly expressed on macrophages where it mediates iron efflux from the breakdown of haem. SLC40A1 colocalises with ceruloplasmin (CP) which stablizes SLC40A1 and is necessary for the efflux reaction to occur. Six copper ions are required by ceruloplasmin as a cofactor.
Defects in SLC40A1 can cause hemochromatosis 4 (HFE4; MIM:606069), a disorder of iron metabolism characterised by iron overload. Excess iron is deposited in a variety of organs leading to their failure, resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis and hypogonadotropic hypogonadism. Severe effects of the disease don't usually appear until after decades of progressive iron overloading (De Domenico et al. 2005, 2006, 2011, Kaplan et al. 2011).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 2** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P00450	Ceruloplasmin	CP hCG_1781201	view
Q9NP59	Ferroportin	FPN FPN1 IREG1 MSTP079 SLC11A3 SLC40A1	view

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