Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)

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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 (Wang et al. 2012, Hsu et al. 2013, Ashtari et al. 2013, Forster et al. 2013).

Literature References
PubMed ID Title Journal Year
24286000 Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification

Pahlevanzadeh, Z, Ashtari, F, Saliminejad, K, Khorshid, HR, Ahani, A, Kamali, K

Avicenna J Med Biotechnol 2013
23506879 Phosphate transporters of the SLC20 and SLC34 families

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

Mol. Aspects Med. 2013
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
Cross References
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