NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of 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. Multiple transcript variants have been described for this gene that are expressed in tissue-specific and developmental stage-specific patterns and encode proteins that differ at the N-terminus. [provided by RefSeq, Sep 2009]
Uniprot Description
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
Cellular Component: membrane; integral to plasma membrane; integral to membrane
Molecular Function: sodium channel regulator activity; ion channel activity
Biological Process: transport; sodium ion transport; ion transport; potassium ion transport
Research Articles on FXYD2
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Product Notes
The FXYD2 fxyd2 (Catalog #AAA3223739) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The FXYD2 Antibody - middle region reacts with Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's FXYD2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the FXYD2 fxyd2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: Synthetic peptide located within the following region: DYETVRKGGL IFAGLAFVVG LLIILSKRFR CGGGKKHRQV NEDEL. It is sometimes possible for the material contained within the vial of "FXYD2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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