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Table 2 Genetic evidence for the biological relevance of ZIP transporters

From: Physiological roles of zinc transporters: molecular and genetic importance in zinc homeostasis

Official symbol Protein Mutation type OMIM Gene locus/ phenotype Abnormality (*Phenotypes in human) Expression References
Slc39a1 ZIP1 KO 604740/ – Abnormal embryonic development Ubiquitous [172]
Slc39a2 ZIP2 KO 612166/ – Abnormal embryonic development Liver, ovary, skin, dendritic cell [173]
Slc39a3 ZIP3 KO 612168/ – Abnormal embryonic and T-cell development Widely distributed [171]
Slc39a4 ZIP4 KO; *Mutation 607059/ 201100 Embryonic lethal, *acrodermatitis enteropathica Small intestine [95, 175,176,177]
Slc39a5 ZIP5 KO; *Mutation 608730/ 615946 Intestinal Zn excretion; Pancreatic Zn accumulation. *Nonsymptomatic high myopia Small intestine, kidney, pancreas [179]
Slc39a6 ZIP6
Liv1
  608731/ – Abnormal gonad formation and E-cadherin expression.
Glial cell migration in Drosophila
Widely distributed [92, 146]
Slc39a7 ZIP7 Ke4   601416/ – Impaired melanin synthesis, FGFR and Notch signaling in Drosophila.
Colon epithelial cell differentiation and proliferation in mouse
Widely distributed
Colon
[180, 205, 206]
Slc39a8 ZIP 8 KO; *Mutation 608732/ 616721 Cdm mouse: Resistance to cadmium-induced testicular damage, Crohn’s disease.
*Disorder of Mn transporter and glycosylation
Widely distributed [99, 102, 182, 183]
Slc39a9 ZIP9    Expressed in breast and prostate cancer cell lines. Apoptosis regulation Widely distributed [184]
Slc39a10 ZIP 10 KO 608733/ – B-cell development.
Breast cancer progression
Widely distributed.
Renal cell carcinoma B-cell
[92, 147, 185, 186]
Slc39a13 ZIP13 KO *Mutation 608735/ 612350 Growth retardation, abnormal hard and connective tissue development.
*Spondylocheiro dysplastic Ehlers–Danlos syndrome
Hard and connective tissues [148, 196]
Slc39a14 ZIP14 KO *Mutation 608736/ 617013 Growth retardation and impaired GPCR signaling.
Impaired Mn homeostasis. Adipokine production.
*Childhood-onset Parkinsonism-dystonia
Widely distributed.
Bone and cartilage
[103, 187, 188]
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