DISEASES

Disease-gene associations mined from literature

Literature associating KL and hypophosphatemia

KL [ENSP00000369442]

Klotho; 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); Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.

Synonyms:  KL,  G3XKV3,  KLOTHO,  Q9UEF7,  G3XKV3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM