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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.
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]
Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability.
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.
|201100 (http://omim.org/entry/201100)||ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE|
|607059 (http://omim.org/entry/607059)||SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4|
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.
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.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.