Table 1.
Zinc transporters whose mutations and SNP cause inherited diseases
Genes | Diseases | Chromosomal localization | Phenotype MIM no. | Clinical features |
---|---|---|---|---|
ZIP4 | Acrodermatitis enteropathica (AE) | 8q24.3 | 201100 | Eczematous dermatitis on the perioral, perianal, and acral areas, alopecia, diarrhea, growth retardation. Ameliorated with zinc supplementation (1–3 mg/kg/day) |
ZIP13 | Spondylocheiro dysplastic Ehlers–Danlos syndrome (SCD-EDS) | 11p11.2 | 612350 | Postnatal growth retardation, skeletal and connective tissue abnormalities, finger contractures, joint hypermobility, protruding eyes with bluish sclera, decreased hydroxyl collagen levels |
ZnT2 | Transient neonatal zinc deficiency (TNZD) | 1p36.11 | 608118 | Erosive dermatitis around the mouth, genital region, neck, and fingers, diarrhea, hair loss, alopecia. Ameliorated with zinc supplementation during nursing |
ZnT8 | Type II diabetes (T2DM) | 8q24.11 | 125853 | Non-synonymous SNP R325 allele variant implicated as a 14 % increased risk for T2DM. Autoantibodies of ZnT8 are present in 60–80 % of T1DM onset |
ZnT10 | Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia | 1q41 | 613280 | Dysarthria, hypertonia, fine tremor, bradykinesia, spastic paraparesis. Blood manganese levels and clinical symptoms are improved by metal chelation therapy |