Nipa1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Non-imprinted in Prader-Willi/Angelman Syndrome 1 | |
|---|---|
| Gene Symbol | NIPA1 |
| Full Name | Magnesium Transporter NIPA1 |
| Chromosome | 9q21.13 |
| NCBI Gene ID | 64359 |
| OMIM | 608456 |
| Ensembl ID | ENSG00000139970 |
| UniProt ID | Q9BUE2 |
| Associated Diseases | Hereditary Spastic Paraplegia Type 6 (SPG6) |
NIPA1 is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of NIPA1 is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
NIPA1 encodes a magnesium transporter localized to the plasma membrane and endolysosomal compartments. It functions as a magnesium ion channel and regulates intracellular magnesium homeostasis. NIPA1 is involved in neuronal development and may play roles in bone mineralization and immune function.
Widely expressed, with high expression in brain, spinal cord, and various tissues.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| SPG6 | Missense | Autosomal dominant | Impaired magnesium transport |
The study of Nipa1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.