SLC39A5 Chromosome 12
Solute carrier family 39 member 5
Upload your DNA to see your personal genotypes for variants in SLC39A5.
What This Gene Does
The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Solute carrier family 39
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000139540
Associated Conditions (2)
Myopia 24
autosomal dominant
Key Variants
RS1403479516
Conflicting classifications of pathogenicity
Myopia 24, autosomal dominant, Myopia 24
Health Risk
RS201722260
Conflicting classifications of pathogenicity
Health Risk
RS1356255450
Likely pathogenic
Myopia 24, autosomal dominant, Myopia 24
Health Risk
RS199624584
Likely pathogenic
Myopia 24, autosomal dominant, Myopia 24
Health Risk
RS587777625
Pathogenic
Myopia 24, autosomal dominant, Myopia 24
Health Risk
RS763604286
Pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1403479516 | Health Risk | Conflicting classifications of pathogenicity | Myopia 24, autosomal dominant, Myopia 24 |
| RS201722260 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1356255450 | Health Risk | Likely pathogenic | Myopia 24, autosomal dominant, Myopia 24 |
| RS199624584 | Health Risk | Likely pathogenic | Myopia 24, autosomal dominant, Myopia 24 |
| RS587777625 | Health Risk | Pathogenic | Myopia 24, autosomal dominant, Myopia 24 |
| RS763604286 | Health Risk | Pathogenic | — |