Defective SLC34A2 does not cotransport Pi, 3Na+

Stable Identifier
R-HSA-5651697
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
ReviewStatus
5/5
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Defective SLC34A2 does not cotransport Pi, 3Na+
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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
Participants
Input
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Catalyst Activity

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

Physical Entity
SLC34A2 mutants [plasma membrane] (Homo sapiens)
Activity
sodium:phosphate symporter activity (GO:0005436)
Normal reaction
SLC34A1,2 cotransports Pi, 3Na+ from extracellular region to cytosol (Homo sapiens)
Functional status

Loss of function of SLC34A2 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
pulmonary alveolar microlithiasis DOID:12117 pulmonary alveolar microlithiasis (disorder)
Authored
Jassal, B  (2014-11-24)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-11-24)
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