External Ids for KL Gene
Previous GeneCards Identifiers for KL Gene
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]
GeneCards Summary for KL Gene
KL (Klotho) is a Protein Coding gene. Diseases associated with KL include Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 and Tumoral Calcinosis, Hyperphosphatemic, Familial, 1. Among its related pathways are Downstream signaling of activated FGFR2 and RET signaling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is KLB.
UniProtKB/Swiss-Prot for KL Gene
May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity).
The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.