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Gene Symbol ATP1A1
Synonyms CMT2DD | HOMGSMR2
Gene Description ATP1A1, ATPase NA/K transporting subunit alpha 1, encodes the alpha 1 subunit of the sodium-potassium pump, which interacts with the beta subunit to mediate ion transport (PMID: 12027879, PMID: 12045105) and regulate cellular homeostasis (PMID: 34232746, PMID: 28634454). ATP1A1 overexpression has been observed in hepatocellular carcinoma (PMID: 26334094), glioblastoma (PMID: 18300910), and esophageal squamous cell carcinoma (PMID: 27845894) and decreased expression has been observed in prostate cancer (PMID: 21784855).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
476 1 1p13.1 NM_000701 Both: Oncogene and Tumor suppressor (PMID: 30606230)
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