title: Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
abstract: 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.
authors.affiliation: Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, USA.
authors.forename: M
authors.initials: M
authors.lastname: Grieff
authors.forename: S
authors.initials: S
authors.lastname: Mumm
authors.forename: P
authors.initials: P
authors.lastname: Waeltz
authors.forename: R
authors.initials: R
authors.lastname: Mazzarella
authors.forename: M P
authors.initials: MP
authors.lastname: Whyte
authors.forename: R V
authors.initials: RV
authors.lastname: Thakker
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D017674:Hypophosphatemia / Q000235:genetics*; D007438:Introns; D008969:Molecular Sequence Data; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D013045:Species Specificity; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D011506:Proteins; D012333:RNA, Messenger; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human