A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21

K. E. White, J. Biber, H. Murer, M. J. Econs

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

The novel gene, Diphor-1, was recently cloned from rat kidney and shown to increase phosphate uptake in cells when co-expressed with a Na+-P(i) cotransporter, indicating that it may play a substantial role in cellular phosphate balance. Previously, the phosphate wasting disorder, autosomal dominant hypophosphatemic rickets (ADHR) was mapped to chromosome 12p13 by linkage analysis. In the present work, PDZK1, a PDZ domain-containing protein highly homologous to rat Diphor-1, was shown to be expressed in human kidney. Based upon its sequence similarity to rat Diphor-1, we considered PDZK1 a feasible candidate gene for ADHR. PDZK1 was found to localize to human chromosome 1q21, thereby ruling it out as a candidate for ADHR.

Original languageEnglish (US)
Pages (from-to)287-290
Number of pages4
JournalAnnals of Human Genetics
Volume62
Issue number4
DOIs
StatePublished - Dec 1 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21'. Together they form a unique fingerprint.

  • Cite this