Atp7A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| ATPase 7A | |
|---|---|
| Gene Symbol | ATP7A |
| Full Name | ATPase 7A (Copper Transporting ATPase) |
| Chromosome | Xq21.1 |
| NCBI Gene ID | [538](https://www.ncbi.nlm.nih.gov/gene/538) |
| OMIM | 300011 |
| Ensembl ID | ENSG00000136939 |
| UniProt ID | [Q9Y5K9](https://www.uniprot.org/uniprot/Q9Y5K9) |
| Protein Length | 1500 amino acids |
| Molecular Weight | 163 kDa |
| Associated Diseases | Menkes Disease, Occipital Horn Syndrome, [Alzheimer's Disease](/diseases/alzheimers-disease) |
ATP7A (ATPase 7A) encodes a P-type copper-transporting ATPase that is essential for systemic copper homeostasis. This transmembrane protein is responsible for copper absorption from the intestine, distribution to peripheral tissues, and incorporation into copper-dependent enzymes. ATP7A is expressed in most tissues except the liver, making it the primary copper transporter for extrahepatic copper metabolism.
Mutations in ATP7A cause Menkes disease, a severe X-linked recessive disorder characterized by progressive neurodegeneration, connective tissue abnormalities, and early death if untreated. The disease results from impaired copper absorption and distribution, leading to severe copper deficiency in the brain and other tissues. Interestingly, emerging research suggests ATP7A dysfunction may also play a role in Alzheimer's disease and other neurodegenerative conditions.
ATP7A is a large transmembrane protein of 1500 amino acids with a molecular weight of approximately 163 kDa. Like ATP7B, it belongs to the P-type ATPase family and contains similar structural domains:
ATP7A operates through a similar mechanism to ATP7B:
ATP7A is widely expressed with highest levels in:
ATP7A localizes to:
Menkes disease results from ATP7A deficiency:
The neuropathology includes:
A milder allelic variant:
ATP7A implications in AD:
Current therapies include:
ATP7A-targeted approaches:
Pharmaceutical strategies:
Atp7a knockout mice:
Tissue-specific knockouts reveal:
ATP7A-related biomarkers:
ATP7A interacts with:
Metal Metabolism: Central copper homeostasis
Mitochondrial Function: Cytochrome c oxidase maturation
Oxidative Stress Response: SOD1 activation
BBB Integrity: Endothelial copper transport
Neuroinflammation: Copper's immunomodulatory effects
[Metal Metabolism in Neurodegeneration](/proteins/met)
[Blood-Brain Barrier](/genes/ar)
[Oxidative Stress](/diseases/neurodegeneration)
[Menkes Disease](/diseases/menkes-disease)
[Alzheimer's Disease](/diseases/alzheimers-disease)
[ATP7B Gene](/genes/atp7b)
The study of Atp7A 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.