SLC30A7
Function
Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway (PubMed:15525635, PubMed:15994300). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases (PubMed:15525635, PubMed:15994300).
Involvement in disease
Ziegler-Huang syndrome
ZHS
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Tissue Specificity
Highly expressed in megakaryocytes and other bone marrow cells and in the epithelium of the small intestine. Expressed in testis (in Leydig cells), adrenal gland (in adrenal medula, zona fasciculata and zona of reticularis), and pituitary gland (in somatotropic cells).
Cellular localization
- Golgi apparatus membrane
- Multi-pass membrane protein
- Cytoplasmic vesicle
- Golgi apparatus
- trans-Golgi network
- Sarcoplasmic reticulum
- Mitochondrion
Alternative names
ZNT7, ZNTL2, SLC30A7, Zinc transporter 7, ZnT-7, Solute carrier family 30 member 7, Znt-like transporter 2