SLC39A4 Gene

Last updated on: 08.06.2022

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

The SLC39A4 gene (SLC39A4 stands for "Solute Carrier Family 39 Member 4") is a protein coding gene located on chromosome 8q24.3. The SLC39A4 gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family that is highly expressed in the duodenum and jejunum (Schmitt S et al. 2009). SLC39A4 mutations are distributed throughout the gene and include many different types of mutations. Since the initial description, >40 mutations or unclassified variants of SLC39A4 have been described in this gene.

General informationThis section has been translated automatically.

The encoded protein is localized at cell membranes and is required for zinc uptake in the intestine. Mutations in this gene lead to the clinical picture of "acrodermatitis enteropathica". Several transcript variants encoding different isoforms have been found for the SLC39A4 gene.

Clinical pictureThis section has been translated automatically.

Diseases associated with SLC39A7 include:

Agammaglobulinemia 9, autosomal recessive

and

Acrodermatitis enteropathica, zinc deficiency type. Acrodermatitis enteropathica (AE) is a very rare, recessively inherited disease caused by severe zinc deficiency. It typically occurs in early infancy and is characterized by perioral and acral dermatitis, alopecia, and diarrhea.

Note(s)This section has been translated automatically.

The encoded protein ZIP-4 plays an important role in cellular zinc homeostasis as a zinc transporter. It is regulated in response to zinc availability. Related metabolic pathways include the transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, and the NRF2 pathway.

LiteratureThis section has been translated automatically.

  1. Kiener S et al. (2021) A missense variant in SLC39A4 in a litter of Turkish Van Cats with Acrodermatitis Enteropathica. Genes (Basel) 12:1309.
  2. Schmitt S et al (2009) An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat 30:926-933.

Last updated on: 08.06.2022