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Title: Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35

Several Mendelian disorders of renal phosphate reabsorption, associated with hypophosphatemia and bone disease, have been described. These include X-linked hypophosphatemia (XLH), hereditary hypophosphatemic rickets with hypercalciuria, hypophosphatemic bone disease, and autosomal dominant and autosomal recessive hypophosphatemic rickets. The underlying mechanisms for renal phosphate wasting in these disorders remain unknown. The proximal tubule is the major site of renal phosphate reabsorption. Thus, mutations in genes that participate in the transepithelial transport of phosphate in this segment of the nephron may be responsible for these disorders. Recently, a cDNA encoding a renal proximal tubular, brush-border membrane Na[sup +]-phosphate cotransporter (NaP[sub i]-3) was cloned from human kidney cortex. As a first step in establishing whether mutations in the NaP[sub i]-3 gene are the cause of inherited disorders in phosphate homeostasis, the authors sought to determine its chromosomal localization. 9 refs., 1 fig.
Authors:
;  [1] ; ;  [2] ;  [3] ;  [4]
  1. (McGill Univ., Montreal (Canada))
  2. (Universite de Montreal, Quebec (Canada))
  3. (Duke Univ., Durham, NC (United States))
  4. (Univ. of Zurich (Switzerland))
Publication Date:
OSTI Identifier:
6860379
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; (United States); Journal Volume: 19:1
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN CHROMOSOME 5; GENETIC MAPPING; PHOSPHORUS; METABOLIC DISEASES; PORINS; GENES; KIDNEYS; BODY; CHROMOSOMES; DISEASES; ELEMENTS; HUMAN CHROMOSOMES; MAPPING; MEMBRANE PROTEINS; NONMETALS; ORGANIC COMPOUNDS; ORGANS; PROTEINS 550400* -- Genetics