Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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The genes SLC20A1 and SLC20A2 encode for phosphate transporters 1 and 2 (PiT1 and PiT2 respectively). They both have a broad tissue distribution and may play a general housekeeping role in phosphate transport such as absorbing phosphate from interstitial fluid and in extracellular matrix and cartilage calcification as well as in vascular calcification. They possess Na+-coupled phosphate (Pi) cotransporter function with a stoichiometry of 2:1 (Na+:Pi). Defects in SLC20A2 can cause idiopathic basal ganglia calcification 1 (IBGC1; MIM:213600), an autosomal dominant disorder characterised by vascular and pericapillary calcification by calcium phosphate in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms including parkinsonism and dementia. Mutations in SLC20A2 that can cause IBGC1 include G498R, S601L, T595M, L170*, S610Afs*17 and V195Lfs*61 (Wang et al. 2012, Hsu et al. 2013).
Literature References
PubMed ID Title Journal Year
23334463 Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sobrido, MJ, Lemos, RR, Klepper, J, Quintáns, B, Bower, M, Coppola, G, Berner, JE, Kostić, V, Zatz, M, Janković, M, Spiteri, E, Mueller, J, Simpson, SA, Schofield, PR, Hopfer, S, Mitchell, PB, García-Estevez, D, Hsu, SC, Mazzoni, P, Huang, A, Geschwind, DH, Tuite, P, Fullerton, JM, Mamah, C, Paulson, H, Vitek, J, Carmona, O, Goudreau, JL, Adair, JC, Maisenbacher, MK, Jen, JC, Lang, AE, de Oliveira, JR, Novakovi?, I, Jaumà, S, Mitarnun, W, Nevarez, L, Svenningsson, P, Dobricić, V, Linglart, A, Paucar, M, Williams, C, Miedzybrodzka, Z, Yang, M, Goldman, J, Wetchaphanphesat, S, Kirdlarp, S, Sears, RL, Fogel, BL, Pierce, KD, Manyam, BV, Brodaty, H

Neurogenetics 2013
22327515 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Ma, H, Yao, J, Sobrido, MJ, Zhang, XY, Dai, X, Baquero, M, Wang, L, Forster, IC, Wang, C, Liu, M, Liu, JY, Wang, T, Wang, J, Shi, L, de Oliveira, JR, Zhang, X, Wang, QK, Quintáns, B, Li, Y, Xu, H, Cui, X, Ma, X, Feng, S, Gao, Y, Patti, M, Liu, J, Zhang, L, Ren, J

Nat. Genet. 2012
Catalyst Activity

sodium:phosphate symporter activity of SLC20A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC20A2 mutants [plasma membrane]

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