LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Czechs (Bohemian), Americans (Baltimore Caucasians and African-Americans)
Study Design
Amino acid substitutions F352V and C370S SNPs were examined in 435 elderly individuals (>75 years) and 611 contemporary newborns (Bohemian Czech), 965 elderly individuals (>65 years) and 646 control infants (Baltimore Caucasians and Baltimore African-Americans)
Conclusions
Homozygous elderly individuals were underrepresented in all populations

Variants (2)

1.
Identifier
F352V
Cytogenetic Location
13q13.1
UCSC Genome Browser
View 13q13.1 on the UCSC genome browser
2.
Identifier
C370S
Cytogenetic Location
13q13.1
UCSC Genome Browser
View 13q13.1 on the UCSC genome browser

Gene details

HGNC symbol
KL
Aliases
 
Common name
klotho 
Description
This gene encodes a type-I membrane protein that is related to beta-glucosidases. 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 this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
6
OMIM
604824
Ensembl
ENSG00000133116
UniProt/Swiss-Prot
KLOT_HUMAN
Entrez Gene
9365
UniGene
524953
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
kl
Mus musculus
Kl
Rattus norvegicus
Kl

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Kl
GenAge human genes
  • This gene is present as KL
CellAge
  • This gene is present as KL

References

Arking et al. (2002)

Other variants which are also part of this study