SLC39A9
The SLC39A9 Gene: Unlocking the Secrets of Zinc Transport
Description
The SLC39A9 gene, located on chromosome 1p36.1-p36.2, encodes a protein called zinc transporter 9 (ZnT9). ZnT9 is a member of the SLC39 family of metal ion transporters and plays a crucial role in maintaining zinc homeostasis within cells.
Zinc is an essential trace mineral involved in various cellular processes, including enzyme function, DNA synthesis, and immune response. ZnT9 helps transport zinc from the cytosol into specific organelles, such as the Golgi apparatus and synaptic vesicles. By regulating zinc distribution, ZnT9 ensures that zinc is available in the right amounts and locations to support cellular functions.
Associated Diseases
Mutations in the SLC39A9 gene have been linked to several inherited disorders characterized by abnormal zinc metabolism:
- Acrodermatitis Enteropathica (AE) is a rare genetic condition characterized by severe zinc deficiency. Individuals with AE have mutations in the SLC39A9 gene that impair ZnT9 function. This leads to decreased zinc absorption from the gut and zinc accumulation in the skin, resulting in characteristic skin lesions, diarrhea, and failure to thrive.
- Transient Neonatal Zinc Deficiency (TNZD) is a temporary zinc deficiency condition that typically occurs in preterm infants. Mutations in the SLC39A9 gene can cause TNZD by disrupting zinc transport in the placenta and breast milk.
- Progressive Encephalopathy with Poliodystrophy is a rare neurological disorder characterized by progressive brain damage and muscle weakness. Mutations in the SLC39A9 gene have been identified in some cases and are believed to affect zinc homeostasis in the brain.
Did you Know ?
Zinc deficiency, often linked to SLC39A9 mutations, affects approximately 17.3% of the global population. This highlights the widespread impact of zinc transport disorders and the importance of understanding the role of SLC39A9 in maintaining zinc balance.
