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Recurrent FXYD2 p.Gly41Arg mutation is associated with isolated dominant hypomagnesaemia.
FXYD2b could regulate the Na,K-ATPase (show ATP1A1 Proteins) by modulating the effective membrane surface electrostatics near the ion binding sites of the pump.
our findings suggested that FXYD2c played a role in regulation of NKA (show TAC1 Proteins) activity by enhancing the expression of NKA (show TAC1 Proteins) in HK-2 (show HK2 Proteins) cells upon hypertonic challenge.
PCBD1 (show PCBD1 Proteins) (dimerization cofactor of HNF-1alpha (show HNF1A Proteins)) is coactivator of the HNF1B (show HNF1B Proteins)-mediated transcription necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule.
This is the first report demonstrating the potential utility of FXYD2 immunohistochemistry in the diagnosis of chromophobe renal cell carcinoma (show MOK Proteins)
findings confirm the presence of an FXYD2 peptide in the crab gill Na,K-ATPase (show ATP1A1 Proteins) and demonstrate that this peptide plays an important role in regulating enzyme activity
wild type HNF1B specifically induces FXYD2A transcription whereas all HNF1B mutants partially prevented it.
Study reveals, in various human tissues, the specific expression of FXYD2, which may associate with Na, K-ATPase (show ATP1A1 Proteins) in selected cell types and modulate its catalytic properties.
Data conclude that human proximal tubular cells respond to a hyperosmotic challenge with an increase in FXYD2 and Na,K-ATPase (show ATP1A1 Proteins) protein expression, though to a smaller absolute extent in patient cells.
Activity of GLAST (show SLC1A3 Proteins) directs FXYD2 protein/gamma subunit to the cell surface, that leads to the activation of the astroglial sodium pump.
FXYD2 activity may be a fundamental mechanism underlying the persistent hypersensitivity to pain induced by inflammation.
Data suggest that in pancreatic beta cells regulatory subunit of Na,K-ATPase (show ATP1A1 Proteins) FXYD2 plays a role in Akt (show AKT1 Proteins) signaling pathways associated with cell growth and proliferation.
The transcription factor Runx1 (show RUNX1 Proteins) controls FXYD2 expression during the maturation of the somato (show SSTR5 Proteins)-sensory system, partly through regulation of the tyrosine kinase receptor (show KDR Proteins) Ret (show RET Proteins).
Fxyd2 encodes three mRNAs that have tissue-specific expression patterns.
the gamma-subunit has an important role in the function of Na-K-ATPase (show ATP1A1 Proteins) to sustain the cellular cation balance over the plasma membrane in a hypertonic environment.
FXYD2 has a role in Na+ affinity and regulating thermal stability in mice
This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.
ATPase, Na+/K+ transporting, gamma 1 polypeptide
, Na(+)/K(+) ATPase subunit gamma
, sodium pump gamma chain
, sodium/potassium-transporting ATPase subunit gamma
, FXYD domain-containing ion transport regulator 2
, sodium/potassium-transporting ATPase gamma chain
, Na,K-ATPase gamma
, gamma subunit of Na,K-ATPase
, FXTD domain-containing ion transport regulator 2
, gamma subunit of sodium potassium ATPase
, Sodium/potassium-transporting ATPase gamma chain