Disease-gene associations mined from literature

Literature associating KL and hyperostosis

KL [ENSP00000369442]

Klotho peptide; 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).

Synonyms:  KL,  Q9UEF7,  Q9UEF7p,  hQ9UEF7, ...

Linkouts:  STRING  Pharos  UniProt  OMIM