OrganismHomo sapiens
Aging PhenotypeCorrelation
Allele TypeN/A
StrainBristol N2
DescriptionThe KL-VS allele of the human KLOTHO gene is more common in infants than in elderly people. Individuals homozygous for KL-VS have a 2.6-fold greater chance of dying by age 65 than individuals that are homozygous for the wild type KLOTHO gene. (Arking et al., 2002)
Gene FunctionSequence similarity to family 1 glycosidases.
Other PhenotypesPremature aging phenotypes in humans have not yet been linked to this gene. Mutation of the mouse homolog results in a shortened life-span (Kuro-o et al, 1997).
HomologsM.m. Klotho
Primary ReferenceArking, D. E., Krebsova, A., Macek, M., Sr., Arking, A., Mian, I. S., Fried, L., Hamosh, A., Dey, S., McIntosh, I., and Dietz, H. C. (2002). Association of human aging with a functional variant of klotho. Proc Natl Acad Sci U S A 15, 15. [Abstract]
Other ReferencesKuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., Iwasaki, H., Iida, A., Shiraki-Iida, T., Nishikawa, S., Nagai, R., and Nabeshima, Y. I. (1997). Mutation of the mouse klotho gen [Abstract]
Relevant LinksLocusLink:
Keywordsprogeria, premature aging, human