Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)

Stable Identifier
R-HSA-5619045
Type
Pathway
Species
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 (Corut et al. 2006, Forster et al. 2013).

Literature References
PubMed ID Title Journal Year
23506879 Phosphate transporters of the SLC20 and SLC34 families

Forster, IC, Hernando, N, Biber, J, Murer, H

Mol. Aspects Med. 2013
16960801 Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

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

Am J Hum Genet 2006
Participants
Participant Of
Disease
Name Identifier Synonyms
pulmonary alveolar microlithiasis 12117 pulmonary alveolar microlithiasis (disorder)
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