SLC30A7 Chromosome 1
Solute carrier family 30 member 7
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What This Gene Does
Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000162695
Associated Conditions (4)
Ziegler-Huang syndrome
Decreased testicular size
Testicular atrophy
Joubert syndrome 1
Key Variants
RS140753374
Conflicting classifications of pathogenicity
Health Risk
RS1413055215
Likely pathogenic
Ziegler-Huang syndrome, Decreased testicular size, Ziegler-Huang syndrome
Health Risk
RS2524688991
Likely pathogenic
Ziegler-Huang syndrome, Testicular atrophy, Ziegler-Huang syndrome
Health Risk
RS1057519442
Pathogenic
Joubert syndrome 1, Joubert syndrome 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140753374 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1413055215 | Health Risk | Likely pathogenic | Ziegler-Huang syndrome, Decreased testicular size, Ziegler-Huang syndrome |
| RS2524688991 | Health Risk | Likely pathogenic | Ziegler-Huang syndrome, Testicular atrophy, Ziegler-Huang syndrome |
| RS1057519442 | Health Risk | Pathogenic | Joubert syndrome 1, Joubert syndrome 1 |