| Description |
The zinc transporter ZIP13, also known as SLC39A13, is a member of a family of divalent ion transporters. Zinc is an essential ion for cells and plays significant roles in the growth, development, and differentiation. The zinc transporter family is divided into four subfamilies (I, II, LIV-1 and gufA). ZIP13 is a multipass membrane protein that belongs to the ZIP transporter subfamily LIV-1. Mutations in ZIP13 have recently been shown to cause a spondylocheiro dysplastic form of Ehlers-Danlos syndrome (SCD-EDS), a generalized skeletal dysplasia involving mainly the spine with clinical abnormalities of the hands in addition to EDS-like features. Other experiments have shown that ZIP13 is required for proper connective tissue development and is involved in BMP/TGF- signaling pathways.
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