Molecular pathogenesis of Spondylocheirodysplastic Ehlers‐Danlos syndrome caused by mutant ZIP13 proteins

The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers‐Danlos syndrome (SCD‐EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD‐EDS caused by two different mutant ZIP13 proteins found in human patients: ZIP13 G64D , in which Gly at amino acid position 64 is replaced by Asp, and ZIP13 ΔFLA...