SLC30A6
Description
The SLC30A6 (solute carrier family 30 member 6) is a protein-coding gene located on chromosome 2.
SLC30A6, also known as ZnT-6, likely lacks intrinsic transporter activity but forms a functional zinc ion:proton antiporter heterodimer with SLC30A5. This heterodimer facilitates zinc entry into the lumen of organelles involved in the secretory pathway, contributing to zinc ion homeostasis within the early secretory pathway. The heterodimer also regulates the activation and folding of enzymes such as alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis.
SLC30A6 is also known as MST103, MSTP103, ZNT6.
Associated Diseases
- hereditary spastic paraplegia 4
- Lisch epithelial corneal dystrophy
- keratoconus 1
- corneal endothelial dystrophy
- Schnyder corneal dystrophy
- X-linked endothelial corneal dystrophy
- corneal dystrophy, punctiform and polychromatic pre-descemet
- keratoconus
- X-linked corneal dermoid
- autosomal dominant keratitis
- granular corneal dystrophy type I
- epithelial basement membrane dystrophy
