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

Kenneth White, J. Biber, H. Murer, Michael Econs

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

Fingerprint

PDZ Domains
Human Chromosomes
Phosphates
Kidney
Proteins
Genes
Chromosomes
Autosomal Dominant Hypophosphatemic Rickets

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21. / White, Kenneth; Biber, J.; Murer, H.; Econs, Michael.

In: Annals of Human Genetics, Vol. 62, No. 4, 1998, p. 287-290.

Research output: Contribution to journalArticle

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