SLC30A5

Description

The SLC30A5 (solute carrier family 30 member 5) is a protein-coding gene located on chromosome 5.

SLC30A5 forms a functional proton-coupled zinc ion antiporter with SLC30A6, mediating zinc entry into the lumen of organelles along the secretory pathway. This transport contributes to zinc ion homeostasis, regulating the activation and folding of enzymes like alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis. Additionally, SLC30A5 plays a crucial role in insulin storage and secretion by transporting zinc into secretory granules of pancreatic beta-cells.

SLC30A5 is also known as ZNT5, ZNTL1, ZTL1, ZnT-5.

Associated Diseases

• hydrops fetalis
• spondyloepimetaphyseal dysplasia with multiple dislocations
• lipodystrophy-intellectual disability-deafness syndrome
• spondylometaphyseal dysplasia, Kozlowski type
• spondyloepiphyseal dysplasia tarda
• melorheostosis with osteopoikilosis
• spondylo-megaepiphyseal-metaphyseal dysplasia
• metatropic dysplasia
• Eiken syndrome
• pseudoachondroplasia
• hip dysplasia, Beukes type