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This study concluded that skin fragility due to defective ZIP13 protein may be attributable to impaired extracellular matrix synthesis accompanied by abnormal peripheral TGF-beta (show TGFB1 Proteins) homeostasis.
The Slc39a13-KO mouse represents a novel animal model linking zinc metabolism, BMP/TGF-beta (show TGFb Proteins) signaling and connective tissue dysfunction.
The spondylocheiro dysplastic form of Ehlers-Danlos syndrome, in which ZIP13 is defective, is likely due to a failure of iron delivery to the secretory compartments.
Authors demonstrated that both the ZIP13(G64D) and ZIP13(DeltaFLA) protein levels are decreased by degradation via the valosin-containing protein (VCP (show vcp Proteins))-linked ubiquitin proteasome pathway.
human ZIP13 releases zinc from vesicular stores
Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.
mutations in the SLC39A13 gene do not account for the Ehlers-Danlos syndrome type VIB (show SEMA6B Proteins) phenotype
clinical features of 6 patients from 2 consanguineous families with Ehlers-Danlos syndrome-like features caused by a mutation in the zinc transporter gene SLC39A13
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.
, solute carrier family 39 member 13
, zinc transporter ZIP13
, zrt- and Irt-like protein 13
, LIV-1 subfamily of ZIP zinc transporter 9
, solute carrier family 39 (metal ion transporter), member 13