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KL

From SNPedia

is agene
is mentioned by
Full nameklotho
EntrezGene9365
PheGenI9365
VariationViewer9365
ClinVarKL
GeneCardsKL
dbSNP9365
SADR9365
HugeNav9365
wikipediaKL
googleKL
gopubmedKL
EVSKL
HEFalMpKL
MyGene2KL
23andMeKL
UniProtQ9UEF7
EnsemblENSG00000133116
OMIM604824
# SNPs16
 Max MagnitudeChromosome positionSummary
rs120756833,016,046
rs121908423033,017,018
rs21123933,022,051
rs2249358033,049,027
rs3752472033,055,256
rs52501433,025,060
rs52690633,024,849
rs56448133,060,846
rs57111833,026,095
rs57791233,036,014
rs64378033,066,938
rs64820233,061,326
rs65043933,061,802
rs732328133,053,623
rs9527025033,054,056intelligence; longevity
rs95363142.733,054,001

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]