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| Symbol | ATP2A1 |
| Full Name | ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1 |
| Chromosome | 16p11.2 |
| NCBI Gene | [487](https://www.ncbi.nlm.nih.gov/gene/487) |
| OMIM | [180360](https://www.omim.org/entry/180360) |
| Ensembl | [ENSG00000196296](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196296) |
| UniProt | [O14983](https://www.uniprot.org/uniprotkb/O14983/entry) |
| Associated Diseases | Myopathy |
ATP2A1 is a gene encoding a protein involved in ion transport that plays important roles in neuronal function and has been implicated in neurodegenerative diseases.
The ATP2A1 gene encodes a protein that is part of a family of ion transporters critical for maintaining ionic homeostasis in neurons. These proteins are essential for proper neuronal excitability, calcium signaling, and cellular viability.
Ion transporters maintain the electrochemical gradients necessary for neuronal function. The ATP2A1 protein contributes to cellular homeostasis and has been studied in the context of excitotoxicity, calcium dysregulation, and neurodegenerative processes in Alzheimer's and Parkinson's disease.
ATP2A1 encodes SERCA1 (Sarco/Endoplasmic Reticulum Ca2+-ATPase 1), a calcium pump critical for muscle contraction. It transports calcium from the cytoplasm into the sarcoplasmic reticulum.
ATP2A1 (SERCA1) is a calcium ATPase that transports Ca2+ into the sarcoplasmic reticulum. Important for muscle contraction.
Expressed in skeletal muscle.
Sanchez-Ruiz et al. SERCA dysfunction in tauopathy (2020). 2020. ↩︎
Groenendyk et al. ER calcium pump in protein folding (2019). 2019. ↩︎
Kaufman et al. Calcium store depletion in neurodegeneration (2020). 2020. ↩︎
Camello et al. ER stress and calcium signaling (2019). 2019. ↩︎