Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse.
BACKGROUND
Hephaestin is a multicopper ferroxidase required for basolateral transport of iron from enterocytes. Sex linked anaemia (sla) mice have a defect in the release of iron from intestinal enterocytes into the circulation due to an interstitial deletion in the hephaestin gene (heph).


RESULTS
We have demonstrated that hephaestin is primarily localised to a supranuclear compartment in both intestinal enterocytes and in cultured cells. In normal intestinal enterocytes, hephaestin was also present on the basolateral surface. In sla mice, hephaestin was present only in the supranuclear compartment. In contrast, the iron permease Ireg1 localised to the basolateral membrane in both control and sla mice.


CONCLUSIONS
We suggest that mislocalisation of hephaestin likely contributes to the functional defect in sla intestinal epithelium.
Kuo
Y M
YM
Departments of Medicine and Pediatrics, University of California-San Francisco, San Francisco, CA 94143-0794, USA.
Su
T
T
Chen
H
H
Attieh
Z
Z
Syed
B A
BA
McKie
A T
AT
Anderson
G J
GJ
Gitschier
J
J
Vulpe
C D
CD
D018798:Anemia, Iron-Deficiency / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D001483:Base Sequence; D001692:Biological Transport; D002462:Cell Membrane / Q000737:chemistry; D002478:Cells, Cultured; D004386:Duodenum; D020895:Enterocytes / Q000737:chemistry; D006801:Humans; D007413:Intestinal Mucosa / Q000737:chemistry*; D007424:Intracellular Fluid / Q000737:chemistry; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins / Q000032:analysis* / Q000235:genetics; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data
C492164:HEPH protein, human; C117324:Heph protein, mouse; D008565:Membrane Proteins; D007501:Iron