MGP Database

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MGP005263

UniProt Annotations

Entry Information
Gene NameFXYD domain containing ion transport regulator 6
Protein EntryFXYD6_HUMAN
UniProt IDQ9H0Q3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0Q3-1; Sequence=Displayed; Name=2; IsoId=Q9H0Q3-2; Sequence=VSP_045996; Note=No experimental confirmation available.;
DiseaseSchizophrenia 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. {ECO:0000269|PubMed:17357072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Sequence CautionSequence=AAQ89335.1; Type=Frameshift; Positions=93; Evidence={ECO:0000305};
SimilarityBelongs to the FXYD family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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