Literature summary for 3.4.24.B15 extracted from

Roetzer, K.M.; Varga, F.; Zwettler, E.; Nawrot-Wawrzyniak, K.; Haller, J.; Forster, E.; Klaushofer, K.
Novel PHEX mutation associated with hypophosphatemic rickets (2007), Nephron. Physiol., 106, 8-12.

Search for more literature for 3.4.24.B15

Protein Variants

Protein Variants	Comment	Organism
C95X	deletion in exon 2 of the PHEX gene 177delC results in a premature stop codon (C59X), suggesting an inactivating truncation of the PHEX protein	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
o-aminobenzoyl-GFSDYK-(2,4-dinitrophenyl)-OH + H2O	-	Homo sapiens	o-aminobenzoyl-GFS + DYK-(2,4-dinitrophenyl)-OH	-	?

Synonyms

Synonyms	Comment	Organism
PHEX	-	Homo sapiens
phosphate-regulating gene with homologies to endopeptidases on the X chromosome	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)