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FXYD6

From Wikipedia, the free encyclopedia
FXYD domain containing ion transport regulator 6
Identifiers
SymbolFXYD6
NCBI gene53826
HGNC4030
OMIM606683
RefSeqNM_022003
UniProtQ9H0Q3
Other data
LocusChr. 11 q23.3
Search for
StructuresSwiss-model
DomainsInterPro

FXYD6 (pronounced fix-id six), or FXYD domain-containing ion transport regulator 6, is a gene which is located at the 11q23.3 (chromosome 11 locus 23.3). The FXYD6 protein contains 95 amino acids, and can be found in all human tissues except blood.

This gene belongs to the FXYD family of ion transport regulators [1]

Pathology

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According to recent research, mutations in the FXYD6 gene, or in sequences close by this gene, can predispose to the schizophrenia which is known to be strongly heritable.[2][3]

References

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  1. ^ ATP1G1/PLM/MAT8 family in PFAM[permanent dead link]
  2. ^ Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin Archived April 30, 2007, at the Wayback Machine
  3. ^ Choudhury K, McQuillin A, Puri V, et al. (2007). "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. 80 (4): 664–72. doi:10.1086/513475. PMC 1852702. PMID 17357072.
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