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Symbol KL contributors: mct - updated : 14-09-2018
HGNC name klotho
HGNC id 6344
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
down-regulated in renal cell carcinomas, hepatocellular carcinomas
constitutional     --low  
down-regulated in chronic renal failure kidney, and decrease in circulating Klotho may contribute to vascular lesions in the patients with chronic renal failure (
constitutional       loss of function
downregulates SIRT1 activity in arterial endothelial and smooth muscle cells
constitutional     --over  
in patients with diabetes and s-KL levels, but decreased with increasing albumin excretion
  • to early-onset coronary artery disease and atherosclerosis
  • to osteoporosis in postmenopausal women
  • to decreased longevity
  • to variation of BMD in male adults
  • to breast and ovarian cancers
  • Variant & Polymorphism SNP , other
  • associated with decreased longevity
  • G395A or C1818T increasing the risk of osteoporosis in postmenopausal women
  • allelic variants of Klotho constitute one of the genetic factors influencing BMD in male adults
  • KL-VS allele defined by the presence of 6 SNPs in exon 2 and flanking sequence impairs the trafficking and catalytic activity of KL
  • some SNPs are associated with sickle cell osteonecrosis
  • G395A is associated with blood pressure and C1818T is associated with glucose metabolism in Korean women
  • KLOTHO-V allele was associated with increased breast and ovarian cancers risk
  • Candidate gene DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
  • reduced serum KL concentrations and decreased vascular KL gene expression were associated with the presence and severity of coronary artery disease (CAD) independently of established cardiovascular risk factors
  • Therapy target
    might be a therapeutic target for preventing cardiovascular disease that complicates various diseases such as chronic kidney disease
  • transgenic mice
  • in klotho-null mice, the activity of calpain is elevated and the activity of its endogenous inhibitor is significantly decreased
  • klotho mice have a barely detectable amount of white adipose tissue, increased glucose tolerance and insulin sensitivity
  • overexpression of klotho in mice extends life span
  • mice heterozygously deficient for klotho gene showed blood flow recovery and impaired angiogenesis after ischemic hindlimb injury
  • Klotho-hypomorphic (Klotho(hm)) mice suffer from renal salt wasting and hypovolemia despite hyperaldosteronism
  • disruption of the Klotho gene in mice results in hypervitaminosis D and a syndrome resembling accelerated aging that includes osteopenia and vascular calcifications
  • in the mdx mouse model of DMD epigenetic silencing of Klotho during muscular dystrophy contributes substantially to lost regenerative capacity and increased fibrosis of dystrophic muscle during late progressive stages of the disease