FXYD2, cDNA Clone

For Research Use Only. Not for use in diagnostic procedures.

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Small volumes of FXYD2 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

7,355 Da

FXYD domain containing ion transport regulator 2

sodium/potassium-transporting ATPase subunit gamma

Sodium/potassium-transporting ATPase subunit gamma

ATP1C; ATP1G1; Na(+)/K(+) ATPase subunit gamma  [Similar Products]

ATNG_HUMAN

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: plasma membrane; sodium:potassium-exchanging ATPase complex

Molecular Function: sodium channel regulator activity; transporter activity

Biological Process: transport

Disease: Hypomagnesemia 2, Renal

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