SLC39A8 Chromosome 4
Solute carrier family 39 member 8
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What This Gene Does
This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Solute carrier family 39
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000138821
Associated Conditions (3)
Inborn genetic diseases
SLC39A8-CDG
SLC39A8-related disorder
Key Variants
RS111649546
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373562040
Conflicting classifications of pathogenicity
SLC39A8-CDG, SLC39A8-CDG
Health Risk
RS376910589
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC39A8-related disorder, Inborn genetic diseases
Health Risk
RS755786784
Conflicting classifications of pathogenicity
SLC39A8-CDG, Inborn genetic diseases, SLC39A8-CDG
Health Risk
RS761480347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779241085
Conflicting classifications of pathogenicity
SLC39A8-CDG, SLC39A8-CDG
Health Risk
RS1057521727
Likely pathogenic
Health Risk
RS1332314048
Likely pathogenic
Health Risk
RS1444255127
Likely pathogenic
SLC39A8-CDG, SLC39A8-CDG
Health Risk
RS1732173818
Likely pathogenic
SLC39A8-CDG, SLC39A8-CDG
Health Risk
RS1734625225
Likely pathogenic
SLC39A8-CDG, SLC39A8-CDG
Health Risk
RS864309659
Likely pathogenic
SLC39A8-CDG, SLC39A8-CDG
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111649546 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373562040 | Health Risk | Conflicting classifications of pathogenicity | SLC39A8-CDG, SLC39A8-CDG |
| RS376910589 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SLC39A8-related disorder, Inborn genetic diseases |
| RS755786784 | Health Risk | Conflicting classifications of pathogenicity | SLC39A8-CDG, Inborn genetic diseases, SLC39A8-CDG |
| RS761480347 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779241085 | Health Risk | Conflicting classifications of pathogenicity | SLC39A8-CDG, SLC39A8-CDG |
| RS1057521727 | Health Risk | Likely pathogenic | — |
| RS1332314048 | Health Risk | Likely pathogenic | — |
| RS1444255127 | Health Risk | Likely pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS1732173818 | Health Risk | Likely pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS1734625225 | Health Risk | Likely pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS864309659 | Health Risk | Likely pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS142863074 | Health Risk | Pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS2149060093 | Health Risk | Pathogenic | SLC39A8-CDG, SLC39A8-CDG |
| RS778210210 | Health Risk | Pathogenic/Likely pathogenic | SLC39A8-CDG, SLC39A8-CDG |