SLC30A8 Chromosome 8
Solute carrier family 30 member 8
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What This Gene Does
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
8q24.11
Ensembl
ENSG00000164756
Associated Conditions (4)
Diabetes mellitus type 2
susceptibility to
SLC30A8-related disorder
Type 2 diabetes mellitus
Key Variants
RS13266634
Benign; risk factor
Diabetes mellitus type 2, susceptibility to, SLC30A8-related disorder
Health Risk
RS757010863
Conflicting classifications of pathogenicity
Health Risk
RS200185429
protective
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Protective
RS587777582
protective
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Protective
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13266634 | Health Risk | Benign; risk factor | Diabetes mellitus type 2, susceptibility to, SLC30A8-related disorder |
| RS757010863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200185429 | Protective | protective | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS587777582 | Protective | protective | Type 2 diabetes mellitus, Type 2 diabetes mellitus |