Sodium/Potassium-Transporting Atpase Subunit Gamma (FXYD2) Human Recombinant Protein

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.[provided by RefSeq, Feb 2011]

FXYD2: May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase. Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2); also known as dominant renal hypomagnesemia or hypomagnesemia with hypocalciuria. HOMG2 is a disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. Belongs to the FXYD family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q23

Cellular Component: intracellular membrane-bound organelle; basolateral plasma membrane; plasma membrane; sodium:potassium-exchanging ATPase complex

Molecular Function: transporter activity; ion channel activity; sodium:potassium-exchanging ATPase activity

Biological Process: transport; regulation of cell growth; transmembrane transport; potassium ion transport; regulation of cell proliferation

Disease: Hypomagnesemia 2, Renal