Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sodium-dependent phosphate transport protein 2B

The SLC34A2 gene encodes a a sodium-phosphate transporter that is predominantly expressed in alveolar epithelial cells type 2 but also found in various other tissues including mammary gland, and to a lesser extent in intestine, kidney, skin, prostate and testes. Mutations cause autosomal recessive pulmonary alveolar microlithiasis.

Genetests:

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

Related Diseases:

Pulmonary alveolar microlithiasis
SLC34A2

References:

1.

Senyiğit A et al. (2001) Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey.

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2.

Corut A et al. (2006) Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

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3.

Feild JA et al. (1999) Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine.

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4.

Traebert M et al. (1999) Expression of type II Na-P(i) cotransporter in alveolar type II cells.

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5.

Hashimoto M et al. (2000) Isolation and localization of type IIb Na/Pi cotransporter in the developing rat lung.

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6.

Orphanet article

Orphanet ID 118831 [^]
7.

NCBI article

NCBI 10568 [^]
8.

OMIM.ORG article

Omim 604217 [^]
9.

Wikipedia article

Wikipedia EN (SLC34A2) [^]
Update: April 29, 2019