Solute carrier family 39 member 13 (SLC39A13)

SLC39A13, also known as Zinc transporter ZIP13, is a membrane-bound member of the solute carrier (SLC) 39 family of zinc transporters, specifically part of the LIV-1 subfamily (ZIPs)[1][2]. It features eight putative transmembrane domains and forms homo-dimers residing primarily in the Golgi apparatus, where both N- and C-termini face the lumen[1][2]. SLC39A13 regulates intracellular zinc homeostasis, particularly in cells forming connective tissue, by mediating zinc influx or redistribution from intracellular stores into the cytosol, thereby ensuring proper cofactor supply for enzymes involved in collagen maturation, such as those responsible for post-translational hydroxylation[1][2][3]. Loss-of-function mutations in SLC39A13 are causative for a recessive disorder, spondylocheiro dysplastic Ehlers-Danlos syndrome (SCD-EDS), characterized by connective tissue defects, joint hypermobility, mild skeletal dysplasia, and skin hyperelasticity[1][2][3]. In animal models, SLC39A13 is required for proper maturation of osteoblasts, chondrocytes, odontoblasts, and fibroblasts, acting at least in part through modulation of BMP/TGF-β signaling pathways critical for connective tissue development[3]. Recently, altered SLC39A13 activity has also been implicated in cancer cell metastasis, such as ovarian cancer, via activation of signaling cascades (e.g., Src/FAK)[2]. There are currently no direct interacting drugs or approved targeted therapies, but SLC39A13 mutations are used as genetic biomarkers for SCD-EDS diagnosis. Dysfunction of this transporter may cause widespread connective tissue pathologies, highlighting safety concerns if targeted pharmacologically[1][2][3].

Other names

Zinc transporter ZIP13ZIP13LZT-Hs9ZIP-13FLJ25785LIV-1 subfamily of ZIP zinc transporter 9LIV-1 subfamily of ZIP zinc transporters human member 9ZRT/IRT-like protein 13zinc transporter 13EDSSPD3SCDEDS

Modulation of zinc levels in the Golgi apparatus and cytosol; Indirect effects on post-translational modifications dependent on zinc; Modulation of BMP/TGF-β signal transduction pathways