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KL

From SNPedia
(Redirected from Klotho)
is agene
is mentioned by
Full nameklotho
EntrezGene9365
PheGenI9365
VariationViewer9365
ClinVarKL
GeneCardsKL
dbSNP9365
DiseasesKL
SADR9365
HugeNav9365
wikipediaKL
googleKL
gopubmedKL
EVSKL
HEFalMpKL
MyGene2KL
23andMeKL
UniProtQ9UEF7
EnsemblENSG00000133116
OMIM604824
# SNPs16
 Max MagnitudeChromosome positionSummary
rs1207568033,016,046
rs121908423033,017,018
rs211239033,022,051
rs2249358033,049,027
rs3752472033,055,256
rs525014033,025,060
rs526906033,024,849
rs564481033,060,846
rs571118033,026,095
rs577912033,036,014
rs643780033,066,938
rs648202033,061,326
rs650439033,061,802
rs7323281033,053,623
rs9527025033,054,056intelligence; longevity
rs95363141.533,054,001

KL is known as the Klotho gene, named for one of the Greek Fates, encodes type-I membrane protein that is related to β-glucuronidases. Mutations in this protein are associated with ageing-related decline, bone loss, and degenerative processes in chronic renal failure(CRF). The KL-VS allele has been associated with coronary artery disease susceptibility and intelligence [1][2][3].

Intelligence effects links to a combination of F352V and C370S http://www.cell.com/cell-reports/fulltext/S2211-1247(14)00287-3#

However [PMID 16753056] says "the single nucleotide polymorphism (SNP) F352V (rs9536314) that defines the KL-VS variant"

And this is plausible, as the HapMap frequencies are nearly identical, so either one can be considered a proxy for the other.


[PMID 22260450] Klotho gene delivery suppresses Nox2 expression and attenuates oxidative stress in rat aortic smooth muscle cells via the cAMP-PKA pathway.

[PMID 23041151] The secreted Klotho protein restores phosphate retention and suppresses accelerated aging in Klotho mutant mice.

[PMID 23093094] Acute kidney injury transcriptomics unveils a relationship between inflammation and ageing.

[PMID 23085347] Amelioration of uremic toxin indoxyl sulfate-induced endothelial cell dysfunction by Klotho protein.

[PMID 23023628] [Nutrition and Phosphorus - New progress and problem - . A potential link between phosphate and aging]