- Human pathology

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MIM.604824 13q13.1

Monday 14 May 2018



Definition: Klotho is an enzyme that in humans is encoded by the KL gene.

The KL gene encodes a type-I membrane protein that is related to β-glucuronidases.

Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF.

Also, mutations within the KL protein have been associated with ageing, bone loss and alcohol consumption. Transgenic mice that overexpress Klotho live longer than wild-type mice.