SLC39A4, solute carrier family 39 member 4, 55630

N. diseases: 87; N. variants: 12
Disease: Zinc deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs534850657
rs534850657
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0235950
Disease:
Zinc deficiency 		0.010 GeneticVariation BEFREE The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. 24586184 2014