SLC39A4 gene

solute carrier family 39 member 4

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

From NCBI Gene:

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:

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

From NCBI Gene:

  • Hereditary acrodermatitis enteropathica

From UniProt:

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. [MIM:201100]

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3

Molecular Location: base pairs 144,412,414 to 144,416,895 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3
  • AEZ
  • AWMS2
  • ZIP4