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. 2014 Apr 8;71(17):3281–3295. doi: 10.1007/s00018-014-1617-0

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