Literature summary for 3.4.24.B15 extracted from

Sabbagh, Y.; Jones, A.O.; Tenenhouse, H.S.
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia (2000), Hum. Mutat., 16, 1-6.

Search for more literature for 3.4.24.B15

Application

Application	Comment	Organism
medicine	X-linked hypophosphatemia is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin D metabolism. The gene responsible for XLH is identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate regulating gene with homology to endopeptidases on the X chromosome	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

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Release 2023.1 (January 2023)