Reaction: Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol
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).
Reaction - small molecule participants:
Pi [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5625123
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Reaction input - small molecules:
hydrogenphosphate
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5625123