Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC39A4

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC39A4 gene?

The official name of this gene is “solute carrier family 39 (zinc transporter), member 4.”

SLC39A4 is the gene's official symbol. The SLC39A4 gene is also known by other names, listed below.

What is the normal function of the SLC39A4 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55630):

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

From UniProt (http://www.uniprot.org/uniprot/Q6P5W5):

Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability.

How are changes in the SLC39A4 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q6P5W5) provides the following information about the SLC39A4 gene's known or predicted involvement in human disease.

Acrodermatitis enteropathica, zinc-deficiency type (AEZ): A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55630) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC39A4 gene.
  • Hereditary acrodermatitis enteropathica
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SLC39A4 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC39A4 gene located?

Cytogenetic Location: 8q24.3

Molecular Location on chromosome 8: base pairs 144,412,413 to 144,416,894

The SLC39A4 gene is located on the long (q) arm of chromosome 8 at position 24.3.

The SLC39A4 gene is located on the long (q) arm of chromosome 8 at position 24.3.

More precisely, the SLC39A4 gene is located from base pair 144,412,413 to base pair 144,416,894 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC39A4?

You and your healthcare professional may find the following resources about SLC39A4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC39A4 gene or gene products?

  • AEZ
  • AWMS2
  • ZIP4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC39A4?

alopecia ; autosomal ; autosomal recessive ; cell ; deficiency ; gene ; hereditary ; homeostasis ; intestine ; iron ; isoforms ; protein ; recessive ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: December 22, 2014