Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal sodium/phosphate cotransporter NaPi-IIc

The gene SLC34A3 encodes a sodium phosphate transporter located in the apical membrane of proximal tubulus cells. Inactivating mutations result in hyperphosphaturie with hypercalciuria and rickets, which is inherited in an autosomal recessive pattern.

Expression

The gene SLC34A3 is expressed exclusively in the kidney where the encoded transporter is found in the apical membrane of proximal tubulus cells.

Interpretation

Loss-of-function mutation in the SLC34A3 gene cause autosomal recessive hypophosphatemic rickets with hypercalciuria. Truncating and missense mutations have been described as pathogenetic relevant.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypophosphatemic rickets with hypercalciuria
SLC34A3

References:

1.

Segawa H et al. (2002) Growth-related renal type II Na/Pi cotransporter.

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2.

Murer H et al. (2004) The sodium phosphate cotransporter family SLC34.

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3.

Bergwitz C et al. (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

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4.

Lorenz-Depiereux B et al. (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

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5.

Ichikawa S et al. (2006) Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

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6.

Forster IC et al. (2006) Proximal tubular handling of phosphate: A molecular perspective.

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7.

Negri AL et al. (2007) Hereditary hypophosphatemias: new genes in the bone-kidney axis.

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8.

Miyamoto K et al. (2007) New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.

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9.

Biber J et al. (2009) Regulation of phosphate transport in proximal tubules.

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10.

Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria.

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Update: Sept. 26, 2018