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Both gain- and loss-of-function studies showed that an accumulation of the CCAAT/enhancer binding protein-beta (C/EBP-beta (Montrer CEBPB Protéines)) protein, which cooperates with dominant transcriptional co-regulator PR domain containing 16 (PRDM16 (Montrer PRDM16 Protéines)) to determine brown/beige adipocyte lineage, is essential for the enhanced adipocyte browning caused by the loss of ZIP13
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 (Montrer TGFB1 Protéines) homeostasis.
The Slc39a13-KO mouse represents a novel animal model linking zinc metabolism, BMP/TGF-beta (Montrer TGFb Protéines) 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 (Montrer vcp Protéines))-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 (Montrer SEMA6B Protéines) 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