The mammalian FXYD family maintains Na+ and K+ gradients between the intracellular and extracellular milieus of cells in processes such as renal Na+-reabsorption, muscle contraction and neuronal excitability. FXYDs are single-span membrane proteins that share a 35 amino acid signature domain, beginning with the sequence PFXYD and containing seven invariant and six conserved amino acids. Members of the FXYD family include FXYD1 (PLM, phospholemman), FXYD2 (the g subunit of the Na+/K+-ATPase), FXYD3 (Mat8, mammary tumor protein), FXYD4 (CHIF) and FXYD5 (RIC). FXYD6 is expressed in various epithelial cells bordering the endolymph space and in the auditory neurons. FXYD6 co-localizes with Na+/K+-ATPase in the stria vascularis and can be co-immunoprecipitated with Na+/K+-ATPase. After expression, FXYD6 associates with Na+/K+-ATPase alpha1-beta1 and alpha1-beta2 isozymes, which are preferentially expressed in different regions of the inner ear and also with gastric and non-gastric H+/K+-ATPase.
Function:
FXYD6 is a putative ion transporter regulator that is associated with susceptibility to schizophrenia type 2 (SCZD2).
Subcellular Location:
Membrane; Single-pass type I membrane protein (Potential).
DISEASE:
Genetic variations in FXYD6 are associated with susceptibility to schizophrenia type 2 (SCZD2) [MIM:603342]. A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
Similarity:
Belongs to the FXYD family.
SWISS:
Q9H0Q3
Gene ID:
53826
Database links:
Entrez Gene: 53826 Human
Entrez Gene: 59095 Mouse
Entrez Gene: 63847 Rat
Omim: 606683 Human
SwissProt: Q9H0Q3 Human
SwissProt: Q9D164 Mouse
SwissProt: Q91XV6 Rat
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