A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

Lasry, Inbal; Ah Seo, Young; Ityel, Hadas; Shalva, Nechama; Pode‐Shakked, Ben; Glaser, Fabian; Berman, Bluma; N. Berezovsky, Igor; Goncearenco, Alexander; Klar, Aharon; Levy, Jacob; Anikster, Yair; L. Kelleher, Shannon; G. Assaraf, Yehuda

doi:10.1074/jbc.m112.368159

Public

A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

Published in Journal of Biological Chemistry • Jun 26, 2012

Authors:

Inbal Lasry

Young Ah Seo

Hadas Ityel

Abstract

Zinc is an essential mineral, and infants are particularly vulnerable to zinc deficiency as they require large amounts of zinc for their normal growth and development. We have recently described the first loss-of-function mutation (H54R) in the zinc transporter ZnT-2 (SLC30A2) in mothers with infant...

Subject

Zinc

Mutant

Transporter

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