Aliases for FXYD4 Gene
External Ids for FXYD4 Gene
Previous GeneCards Identifiers for FXYD4 Gene
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. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
GeneCards Summary for FXYD4 Gene
FXYD4 (FXYD Domain Containing Ion Transport Regulator 4) is a Protein Coding gene. Diseases associated with FXYD4 include Deafness, Autosomal Recessive 33 and Primary Hypomagnesemia. Among its related pathways are Cardiac conduction and Aldosterone-regulated sodium reabsorption. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is ENSG00000285526.