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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

DOI

10.1006/bbrc.1997.6153

Type

Journal article

Journal

Biochem Biophys Res Commun

Publication Date

24/02/1997

Volume

231

Pages

635 - 639

Keywords

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