Gene: KL

Alternate names for this Gene: HFTC3

Gene Summary: 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.1

Description of this Gene: klotho

Type of Gene: protein-coding

rs472875 in KL gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs472875 in KL gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs472875 in KL gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs121908423 in KL gene and TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 PMID 17710231 2007 A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.