Tableau I.
Maladies génétiques liées à une réabsorption rénale inappropriée de phosphate et à une anomalie de la phosphatémie chez l’homme. Intacte : peptide non clivé (32kD) ; C-terminal: peptide carboxy-terminal résultant du clivage de la forme intacte ; GALNT3, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 ; DMP1 ; PHEX, phosphate regulating endopeptidase homolog, X-linked ; GNAS, α-subunit of stimulatory G proteins ; NHERF1, Na/H exchange regulatory factor-1 ; NPT2c, type IIc sodium-dependent phosphate transporter.
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