SLC20A2: Difference between revisions
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==Genomics== |
==Genomics== |
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This gene is found on the short arm of [[chromosome 8]] (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons. |
This gene is found on the short arm of [[chromosome 8]] (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons. |
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Recently, Wang et al.(2012) reported 7 diferent mutations in SLC20a2 gene in various families with idiopathic basal ganglia calcification ("Fahr´s Disease), originally from China, Brasil and Spain. This finding suggests that familial idiopathic basal ganglia |
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calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter. |
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==Molecular biology== |
==Molecular biology== |
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Revision as of 09:49, 17 February 2012
Template:PBB Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.[1][2][3]
Genomics
This gene is found on the short arm of chromosome 8 (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons. Recently, Wang et al.(2012) reported 7 diferent mutations in SLC20a2 gene in various families with idiopathic basal ganglia calcification ("Fahr´s Disease), originally from China, Brasil and Spain. This finding suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.
Molecular biology
The protein acts as a homodimer and is involved in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis.
See also
References
- ^ Kozak SL, Siess DC, Kavanaugh MP, Miller AD, Kabat D (1995). "The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species". J Virol. 69 (6): 3433–40. PMC 189055. PMID 7745689.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L (2006). "Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2". Am J Physiol Cell Physiol. 291 (6): C1377–87. doi:10.1152/ajpcell.00015.2006. PMID 16790504.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".
Further reading
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