| Description: | This reference sequence was derived from multiplereplicate ESTs and validated by similar human genomic sequence.This gene encodes a member of a family of small membrane proteinsthat share a 35-amino acid signature sequence domain, beginningwith the sequence PFXYD and containing 7 invariant and 6 highlyconserved amino acids. The approved human gene nomenclature for thefamily is FXYD-domain containing ion transport regulator.Transmembrane topology has been established for two family members(FXYD1 and FXYD2), with the N-terminus extracellular and theC-terminus on the cytoplasmic side of the membrane. FXYD2, alsoknown as the gamma subunit of the Na,K-ATPase, regulates theproperties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma),FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown toinduce channel activity in experimental expression systems. Thisgene product, FXYD7, is novel and has not been characterized as aprotein. [RefSeq curation by Kathleen J. Sweadner, Ph.D.,sweadner@helix.mgh.harvard.edu.]. |
