FXYD6: Difference between revisions
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{{protein | {{infobox protein | ||
|Name=FXYD domain containing ion transport regulator 6 | |Name=FXYD domain containing ion transport regulator 6 | ||
|caption= | |caption= | ||
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|LocusSupplementaryData= | |LocusSupplementaryData= | ||
}} | }} | ||
'''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. | '''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 regulator]]s <ref> [http://www.sanger.ac.uk/cgi-bin/Pfam/getacc?PF02038 ATP1G1/PLM/MAT8 family in PFAM] </ref> | This gene belongs to the [[FXYD family]] of [[ion transport regulator]]s <ref>[http://www.sanger.ac.uk/cgi-bin/Pfam/getacc?PF02038 ATP1G1/PLM/MAT8 family in PFAM]</ref> | ||
==Pathology== | ==Pathology== | ||
According to recent research, | 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.<ref>[http://www.schizophreniaforum.org/new/detail.asp?id=1326 Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin] {{webarchive |url=https://web.archive.org/web/20070430235133/http://www.schizophreniaforum.org/new/detail.asp?id=1326 |date=April 30, 2007 }}</ref><ref>{{cite journal |vauthors=Choudhury K, McQuillin A, Puri V |title=A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia |journal=Am. J. Hum. Genet. |volume=80 |issue=4 |pages=664–72 |year=2007 |pmid=17357072 |doi=10.1086/513475 |pmc=1852702|display-authors=etal}}</ref> | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
== External links == | == External links == | ||
*[ | *[https://www.genecards.org/cgi-bin/carddisp.pl?gene=FXYD6 GeneCards page about the gene] | ||
[[Category:Genes on chromosome 11]] | [[Category:Genes on human chromosome 11]] | ||
[[Category:Transmembrane proteins]] | [[Category:Transmembrane proteins]] | ||
Latest revision as of 05:19, 23 March 2018
FXYD domain containing ion transport regulator 6 | |
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Identifiers | |
Symbol | FXYD6 |
Entrez | 53826 |
HUGO | 4030 |
OMIM | 606683 |
RefSeq | NM_022003 |
UniProt | Q9H0Q3 |
Other data | |
Locus | Chr. 11 q23.3 |
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
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
- ↑ ATP1G1/PLM/MAT8 family in PFAM
- ↑ Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin Archived April 30, 2007, at the Wayback Machine.
- ↑ 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.