FXYD domain containing ion transport regulator 2, Polyclonal Antibody

FXYD domain containing ion transport regulator 2; FXYD2; ATP1G1; HOMG2; MGC12372

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

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3.

Upon receipt store at -20°C or -80°C. Avoid repeated freeze.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-FXYD2 antibody 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.

This gene encodes a member o f a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme s activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia. Alternatively spliced transcript variants encodingdifferent isoforms have been found for this gene.

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

FXYD domain containing ion transport regulator 2

sodium/potassium-transporting ATPase subunit gamma; sodium pump gamma chain; Na(+)/K(+) ATPase subunit gamma; ATPase, Na+/K+ transporting, gamma 1 polypeptide

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

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

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

Disease: Hypomagnesemia 2, Renal

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