Literature summary for 3.4.24.B15 extracted from

Owen, C.; Chen, F.; Flenniken, A.M.; Osborne, L.R.; Ichikawa, S.; Adamson, S.L.; Rossant, J.; Aubin, J.E.
A novel Phex mutation in a new mouse model of hypophosphatemic rickets (2012), J. Cell. Biochem., 113, 2432-2441.

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Protein Variants

Protein Variants	Comment	Organism
K496X	mice carrying a point mutation in exon 14 of the Phex gene that introduces a stop codon at amino acid 496 of the coding sequence exhibit the classic clinical manifestations of XLH, including growth retardation, skeletal abnormalities (rickets/osteomalacia), hypophosphatemia, and increased serum alkaline phosphatase levels	Mus musculus

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Zn2+	a zinc metalloprotease	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	P70669	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
bone	-	Mus musculus	-

Synonyms

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

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Release 2023.1 (January 2023)