Defective SLC34A2 does not cotransport Pi, 3Na+

Stable Identifier
Reaction [transition]
Homo sapiens
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SLC34A1 and 2 encode Na+/Pi cotransporters, which cotransport divalent phosphate (PO4(2-), Pi) with 3 Na+ ions. SLC34A2 is abundantly expressed in lung and to a lesser extent in tissues of epithelial origin including small intestine, pancreas, prostate, and kidney. Defects in SLC34A2 are a cause of pulmonary alveolar microlithiasis (PALM; MIM:265100), a rare disease characterised by the deposition of calcium phosphate microliths throughout the lungs. The disease follows a long-term progressive course, resulting in a slow deterioration of lung function. Mutations causing PALM include Q76*, G106R, K304* and N38Tfs*8 (Corut et al. 2006, Zhonghua et al. 2009).

Literature References
PubMed ID Title Journal Year
16960801 Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

Corut, A, Tolun, A, Yildirim, Z, Gocmen, A, Senyigit, A, Ozcelik, U, Altin, S, Calisir, H, Ugur, SA

Am J Hum Genet 2006
20017296 [A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis]

Cai, XD, Zhong, YQ, Nie, HP, Hu, CP

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009
Catalyst Activity

sodium:phosphate symporter activity of SLC34A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC34A2 mutants [plasma membrane]

Name Identifier Synonyms
pulmonary alveolar microlithiasis DOID:12117 pulmonary alveolar microlithiasis (disorder)
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