Identification of SLC39A4, a gene involved in acro...[Nat Genet. 2002]

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1: Nat Genet. 2002 Jul;31(3):239-40. Epub 2002 Jun 17. Links

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

Küry S, Dréno B, Bézieau S, Giraudet S, Kharfi M, Kamoun R, Moisan JP.

Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, 1 rue Gaston Veil, 44035 Nantes Cedex, France. skury@sante.univ-nantes.fr

We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.

PMID: 12068297 [PubMed - indexed for MEDLINE]

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.
Am J Hum Genet. 2002 Jul; 71(1):66-73. Epub 2002 May 24.

[Am J Hum Genet. 2002]
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.
Hum Mutat. 2003 Oct; 22(4):337-8.

[Hum Mutat. 2003]
[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4]
Klin Padiatr. 2006 Jul-Aug; 218(4):221-3.

[Klin Padiatr. 2006]
ReviewAcrodermatitis enteropathica and an overview of zinc metabolism.
J Am Acad Dermatol. 2007 Jan; 56(1):116-24. Epub 2006 Oct 30.

[J Am Acad Dermatol. 2007]
ReviewRegulation and function of Zip4, the acrodermatitis enteropathica gene.
Biochem Soc Trans. 2008 Dec; 36(Pt 6):1242-6.

[Biochem Soc Trans. 2008]
» See reviews... | » See all...

Cited by 15 PubMed Central articles

The immune system and the impact of zinc during aging.
Haase H, Rink L. Immun Ageing. 2009 Jun 12; 6:9. Epub 2009 Jun 12.

[Immun Ageing. 2009]
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, et al. PLoS One. 2008; 3(11):e3642. Epub 2008 Nov 5.

[PLoS One. 2008]
Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations.
Kambe T, Andrews GK. Mol Cell Biol. 2009 Jan; 29(1):129-39. Epub 2008 Oct 20.

[Mol Cell Biol. 2009]
» See all...

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