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. 2017 Dec 13;18(12):2708. doi: 10.3390/ijms18122708

Table 2.

Hereditary human diseases of SLC39A/ZIP transporters.

Genes/Proteins Mutation Type OMIM Gene Locus/Phenotype Chromosomal Location Disease References
Slc39a4/ZIP4 Mutation 607059/201100 8q24.3 Acrodermatitis enteropathica (AE) [17]
Slc39a5/ZIP5 Mutation 608730/615946 12q13.3 Nonsymptomatic high myopia [49]
Slc39a8/ZIP8 Mutation, Single nucleotide polymorphism (SNP) 608732/616721 4q24 Cerebellar Atrophy Syndrome, Congenital disorder of glycosylation type II [50,51]
Slc39a13/ZIP13 Mutation 608735/612350 11p11.2 Spondylocheiro dysplastic Ehlers-Danlos syndrome (SCD-EDS) [32,33]
Slc39a14/ZIP14 Mutation 608736/617013 8q21.3 Childhood-onset parkinsonism-dystonia, Hypermanganesemia with dystonia 2 [52]