Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.N106K
Back to variants list

SLC39A4

NM_130849.4:p.N106K

Associated Papers

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

Structural insights of ZIP4 extracellular domain critical for optimal zinc transport.

Zhang T et al.

Nature Communications, 2016

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Schmitt S et al.

Human Mutation, 2009

Regulation and function of Zip4, the acrodermatitis enteropathica gene.

Andrews GK

Biochemical Society Transactions, 2008

Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter.

Wang F et al.

Human Molecular Genetics, 2004

The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice.

Dufner-Beattie J et al.

The Journal of Biological Chemistry, 2003

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.

Wang K et al.

American Journal of Human Genetics, 2002

Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.

Kuliyev E et al.

The Journal of Biological Chemistry, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."