KL
| is a | gene |
| is | mentioned by |
| Full name | klotho |
| EntrezGene | 9365 |
| PheGenI | 9365 |
| VariationViewer | 9365 |
| ClinVar | KL |
| GeneCards | KL |
| dbSNP | 9365 |
| Diseases | KL |
| SADR | 9365 |
| HugeNav | 9365 |
| wikipedia | KL |
| KL | |
| gopubmed | KL |
| EVS | KL |
| HEFalMp | KL |
| MyGene2 | KL |
| 23andMe | KL |
| UniProt | Q9UEF7 |
| Ensembl | ENSG00000133116 |
| OMIM | 604824 |
| # SNPs | 16 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1207568 | 0 | 33,016,046 | |
| rs121908423 | 0 | 33,017,018 | |
| rs211239 | 0 | 33,022,051 | |
| rs2249358 | 0 | 33,049,027 | |
| rs3752472 | 0 | 33,055,256 | |
| rs525014 | 0 | 33,025,060 | |
| rs526906 | 0 | 33,024,849 | |
| rs564481 | 0 | 33,060,846 | |
| rs571118 | 0 | 33,026,095 | |
| rs577912 | 0 | 33,036,014 | |
| rs643780 | 0 | 33,066,938 | |
| rs648202 | 0 | 33,061,326 | |
| rs650439 | 0 | 33,061,802 | |
| rs7323281 | 0 | 33,053,623 | |
| rs9527025 | 0 | 33,054,056 | intelligence; longevity |
| rs9536314 | 1.5 | 33,054,001 |
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]
