Symbol: KL Name: klotho Entrez gene ID: 9365 Ensembl gene ID: ENSG00000133116 Species: Human (Taxid: 9606) Functional description: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity). [UniProt] Observation: The KL-VS allele of the klotho gene is more common in infants than in elderly individuals. Individuals homozygous for KL-VS have a 2.6-fold greater chance of dying by age 65 than individuals that are homozyogous that are homozyogous for the wild-type klotho allele [11792841]. KL was found to be associated with longevity [17903295; 22406557; 15677572]. KL was not found to be associated with longevity [18034366]. KL was found to be associated with longevity [24164579]. Assays: Organismal Lifespan Longevity Associated Variants: Classification: Type: References: Aging Relevance Analysis/Source: Homologs Inparanoids Edit \ Update (Admin) | Delete |
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