solute carrier family 20 member 2
Última actualización 18 Aug 2020
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El SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein is highly active in nerve cells (neurons) in the brain. It plays a major role in regulating the levels of a molecule called phosphate in cells (phosphate homeostasis). Specifically, the PiT-2 protein uses positively charged sodium atoms (ions) to transport phosphate in out and of cell membranes. Phosphate is needed for many cellular functions including the breakdown of substances (metabolic processes), signaling between cells, and the production of DNA building blocks (nucleic acids) and fats.
Normal function
El SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein is highly active in nerve cells (neurons) in the brain. It plays a major role in regulating the levels of a molecule called phosphate in cells (phosphate homeostasis). Specifically, the PiT-2 protein uses positively charged sodium atoms (ions) to transport phosphate in out and of cell membranes. Phosphate is needed for many cellular functions including the breakdown of substances (metabolic processes), signaling between cells, and the production of DNA building blocks (nucleic acids) and fats.
Conditions referring to this gene or chromosome
Otros nombres
gibbon ape leukemia virus receptor 2
GLVR-2
GLVR2
MLVAR
murine leukemia virus, amphotropic, receptor for
PIT-2
PIT2
S20A2_HUMAN
sodium-dependent phosphate transporter 2
solute carrier family 20 (phosphate transporter), member 2
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Lecturas adicionales y referencias
- solute carrier family 20 member 2; MedlinePlus, National Library of Medicine.
- Bottger P, Pedersen L. Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochem. 2011 May 17;12:21. doi: 10.1186/1471-2091-12-21.
- Hsu SC, Sears RL, Lemos RR, Quintans B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, Garcia-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jauma S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.
- Inden M, Iriyama M, Zennami M, Sekine SI, Hara A, Yamada M, Hozumi I. The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains. Brain Res. 2016 Apr 15;1637:128-136. doi: 10.1016/j.brainres.2016.02.032. Epub 2016 Feb 26.
- Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, Crow YJ, Campion D, Coppola G, Oliveira JR. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat. 2015 May;36(5):489-95. doi: 10.1002/humu.22778. Epub 2015 Apr 6.
- Taglia I, Formichi P, Battisti C, Peppoloni G, Barghigiani M, Tessa A, Federico A. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. J Cell Physiol. 2018 Mar;233(3):2324-2331. doi: 10.1002/jcp.26104. Epub 2017 Sep 18.
- Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.
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