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X-linked hypophosphatemia (XLH), which is a heritable metabolic bone disease characterized biochemically by selective renal phosphate (Pi) wasting, is associated with mutations in the PEX (Phosphate-regulating gene with homologies to Endopeptidases on the X-chromosome) gene. To further explore the physiologic role of PEX and define its effect in XLH we have determined the expression and tissue distribution. Northern analysis found abundant PEX mRNA in a restricted pattern, predominantly in adult ovary and fetal lung. In addition, PEX expression was also found in adult lung and fetal liver. A PEX cDNA of 2550 basepairs, which contains the full PEX coding region, was isolated from a human ovary cDNA library. The PEX cDNA shows high homology to other membrane-bound zinc metallopeptidases. The presence of PEX in nonosseous tissues strongly suggests features of a systemic role, rather than a unique function in bone development.

Original publication




Journal article


Biochem Biophys Res Commun

Publication Date





635 - 639


Amino Acid Sequence, Base Sequence, Cloning, Molecular, DNA, Complementary, Gene Expression, Humans, Hypophosphatemia, Introns, Molecular Sequence Data, PHEX Phosphate Regulating Neutral Endopeptidase, Point Mutation, Proteins, RNA, Messenger, Species Specificity, X Chromosome