Human pathology

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FXYD6

MIM.606683

FXYD6 gene at 11q22-24 encoding phosphohippolin.

The gene family FXYDs (pronounced fix-id) consists of small membrane proteins containing a core motif of 35 invariant and conserved amino acids centered on a single transmembrane span.

Pathology

- susceptibility to schizophrenia (locus SCZD2 at 11q14-q21) (17357072)

References

- Choudhury K, McQuillin A, Puri V, Pimm J, Datta S, Thirumalai S, Krasucki R, Lawrence J, Bass NJ, Quested D, Crombie C, Fraser G, Walker N, Nadeem H, Johnson S, Curtis D, St Clair D, Gurling HM. A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia. Am J Hum Genet. 2007 Apr;80(4):664-72. PMID: 17357072