SLC30A5 Chromosome 5
Solute carrier family 30 member 5
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What This Gene Does
This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
5q13.1-q13.2
Ensembl
ENSG00000145740
Associated Conditions (5)
Hypertrophic cardiomyopathy
Hydrops fetalis
Noncompaction cardiomyopathy
Severe hydrops fetalis
Concentric hypertrophic cardiomyopathy
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1746359403 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hydrops fetalis, Noncompaction cardiomyopathy |
| RS1746589361 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hydrops fetalis, Noncompaction cardiomyopathy |