Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Klotho

The KL gene encodes klotho that together with FGFR1 plays an essential role in signal transduction of the FGF23 hormone. Moreover, it seems to exert various anti-aging functions. Low serum levels cause premature aging while hight levels are associated with longevity. Loss-of-function mutations cause autosomal recessive hypophosphatemic familial tumoral calcinosis while a gain-of-function translation is described to result in hypophosphatemic rickets with hyperparathyroidism.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypophosphatemic rickets with hyperparathyroidism
KL
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL

References:

1.

Urakawa I et. al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.

[^]
2.

Kurosu H et. al. (2005) Suppression of aging in mice by the hormone Klotho.

[^]
3.

Kuro-o M et. al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing.

[^]
4.

Matsumura Y et. al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein.

[^]
5.

Saito Y et. al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome.

[^]
6.

Mori K et. al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice.

[^]
7.

Koh N et. al. (2001) Severely reduced production of klotho in human chronic renal failure kidney.

[^]
8.

Arking DE et. al. (2002) Association of human aging with a functional variant of klotho.

[^]
9.

Fukino K et. al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho.

[^]
10.

Manya H et. al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain.

[^]
11.

Arking DE et. al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease.

[^]
12.

Bektas A et. al. (2004) Klotho gene variation and expression in 20 inbred mouse strains.

[^]
13.

Chang Q et. al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.

[^]
14.

Haruna Y et. al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene.

[^]
15.

Imura A et. al. (2007) alpha-Klotho as a regulator of calcium homeostasis.

[^]
16.

Liu H et. al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging.

[^]
17.

Ichikawa S et. al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

[^]
18.

Chen CD et. al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.

[^]
19.

Brownstein CA et. al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

[^]
Update: Sept. 26, 2018