Disease relevance of SLC30A4

• We also report the mutational analysis of human SLC30A4 in ten families with acrodermatitis enteropathica, which enabled us to exclude this gene from any involvement in the disorder of the patients examined [1].
• Interestingly, decreased intensity of ZnT4 immunoreactivity occurred in the progression from benign to invasive localized prostate cancer and to metastatic disease [2].

Psychiatry related information on SLC30A4

• On the other hand, negative association results were observed at 15q14-q21 susceptibility region for catatonia with the genes encoding the zinc transporter SLC30A4, the cholinergic receptor nicotinic alpha polypeptide 7, and the delta-like 4 Drosophila [3].
• The mutation scan revealed no genetic variants within the coding and the putative promoter region of SLC30A4 and, thus, excludes a genetic association of SLC30A4 with catatonic schizophrenia [4].

High impact information on SLC30A4

• Labile zinc and zinc transporter ZnT4 in mast cell granules: role in regulation of caspase activation and NF-kappaB translocation [5].
• The supplement had no effect on expression of SLC30A4 or SLC39A1 mRNA [6].
• These findings are consistent with a role for ZnT4 in vesicular transport of zinc to the cell membrane and potentially in efflux of zinc in the prostate [2].
• A polyclonal antipeptide antibody was used to demonstrate ZnT4 expression in the epithelium of all 165 elements of benign and 326 elements of localized prostate cancers examined and in nine of 10 advanced prostate cancer specimens by immunohistochemistry [2].
• Constitutive expression of hZnT4 zinc transporter in human breast epithelial cells [7].

Biological context of SLC30A4

• Here we detail the genomic structure of human SLC30A4 together with its localization on chromosome 15q15-q21 [1].
• The murine homologue of the human SLC30A4 gene has previously been investigated and found responsible for the lm, a phenotype due to zinc deficiency [1].
• Immunofluorescence analysis and surface biotinylation studies of cells expressing ZnT4 localised the protein to intracellular vesicles and to the plasma membrane [2].
• The function of the zinc transporter ZnT4 in the transport of zinc into milk during lactation was previously demonstrated by studies of a mouse mutant, the 'lethal milk' mouse, where a mutation in the ZnT4 gene decreased the transport of zinc into milk [7].
• CONCLUSIONS: These data suggest that zinc homeostasis in normal prostate tissues results from an interplay of multiple transporters and decreased hZnT-4 expression is associated with prostate tissue abnormalities independent of total cellular zinc content [8].

Anatomical context of SLC30A4

• Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk [9].
• The hZnT4 gene was highly expressed in mouthwash buccal cells compared with lymphoblasts and fibroblasts [9].

Associations of SLC30A4 with chemical compounds

• The hZnT4 protein was present in the luminal cells of the ducts and alveoli where it had a granular distribution [7].
• Double labelling indicated that there was no obvious overlap between Zinquin and the hZnT4 protein, suggesting that hZnT4 was not directly involved in the transport of zinc into vesicles [7].

Other interactions of SLC30A4

• Two zinc-related diseases, acrodermatitis enteropathica and the lethal milk syndrome, have been recently related to mutations in zinc transporters, SLC39A4 and ZnT-4, respectively [10].

Analytical, diagnostic and therapeutic context of SLC30A4

• Western-blot analysis using antibodies to peptide sequences of hZnT4 detected a major band of the predicted size of 47 kDa and a minor band of 77 kDa, in extracts from the resting and lactating breast tissues [7].
• We detected hZnT4 mRNA expression in the tissue from the resting and lactating human breast, using reverse-transcriptase PCR [7].
• High-resolution radiation hybrid mapping placed ZNT4 on 15q21 [11].

References