Aliases for FXYD7 Gene
External Ids for FXYD7 Gene
Previous GeneCards Identifiers for FXYD7 Gene
This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. 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. 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. 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. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., firstname.lastname@example.org., Dec 2000]
GeneCards Summary for FXYD7 Gene
FXYD7 (FXYD Domain Containing Ion Transport Regulator 7) is a Protein Coding gene. Diseases associated with FXYD7 include Lubs X-Linked Mental Retardation Syndrome and Primary Hypomagnesemia. 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 sodium channel regulator activity. An important paralog of this gene is FXYD1.