Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)

Stable Identifier
R-HSA-5687583
Type
Pathway
Species
Homo sapiens
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The human gene SLC34A2 encodes NaPi-2b which is abundantly expressed in lung and to a lesser degree in epithelia of other tissues including small intestine, pancreas, prostate, and kidney. In the lung, SLC34A2 is expressed only in alveolar type II cells, which are responsible for surfactant production, so it is proposed that it uptakes liberated phosphate from the alveolar fluid for surfactant production. SLC34A2 cotransports divalent phosphate (HPO4(2-)) with three Na+ ions (electrogenic transport) from the extracellular region into alveolar type II cells. Defects in SLC34A2 can cause pulmonary alveolar microlithiasis (PALM; MIM:265100), a rare disease characterised by the deposition of calcium phosphate microliths (tiny, roundish corpuscles) throughout the lung. Most patients remain asymptomatic for years or decades, the disease following a long-term, progressive course resulting in slow deterioration of lung functions. PALM can result in a potentially lethal disease (Yin et al. 2013, Ferreira Francisco et al. 2013, Whitsett et al. 2015).

Literature References
PubMed ID Title Journal Year
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Wert, SE, Weaver, TE

Annu Rev Pathol 2015
23164546 SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures

Yin, X, Wang, H, Wu, D, Zhao, G, Shao, J, Dai, Y

Respir Med 2013
23183116 Pulmonary alveolar microlithiasis. State-of-the-art review

Ferreira Francisco, FA, Pereira e Silva, JL, Hochhegger, B, Zanetti, G, Marchiori, E

Respir Med 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
pulmonary alveolar microlithiasis 12117 pulmonary alveolar microlithiasis (disorder)
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