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. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is ENSG00000285526.