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SLC39A4

Wednesday 21 July 2010

SLC39A4 gene (8q24) encodes a histidine-rich protein hZIP4, a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. (12032886)

Pathology

- mutations in the SLC39A4 gene in acrodermatitis enteropathica (AE)

  • defect in the absorption of dietary zinc.

See also

- SLCs

References

- An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. Hum Mutat. 2009 Jun;30(6):926-33. PMID: 19370757

- Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica. Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP. Hum Mutat. 2003 Oct;22(4):337-8. PMID: 12955721

- Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Küry S, Dréno B, Bézieau S, Giraudet S, Kharfi M, Kamoun R, Moisan JP. Nat Genet. 2002 Jul;31(3):239-40. PMID: 12068297