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SLC20A2 encodes a member of the inorganic phosphate transporter family. Additionally we are shipping SLC20A2 Antibodies (28) and many more products for this protein.
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Deletion of 5' noncoding region of SLC20A2 was associated with primary familial brain calcification in a Finnish family with three affected memebers.
The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1.
Report sub-cellular expression analysis of mutant PiT-2 in primary cultured fibroblasts from a primary familial brain calcification patient, showing that p.Trp626_Thr629dup in SLC20A2 alters PiT-2 sub-cellular localization and reduces Pi-uptake, leading to onset of PFBC in our patient.
Deletions of exon 2 of SLC20A2 identified in two unrelated patients segregated with primary brain calcification.
In mouse cells, the SLC20A2 brain calcification causal missense mutations exert their effect in a dominant negative manner resulting in decreased wild-type PiT2 Pi transport.
This study presented the Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.
SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures.
Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied.
A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review).
Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification.
These results suggest that PiT-2 is involved in normal bone development and growth and plays roles in cortical and trabecular bone metabolism feasibly by regulating local phosphate transport and mineralization processes in the bone.
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid
Knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex.
PiT-2 is ubiquitously expressed throughout the brain and plays an important role in the maintenance of intracellular inorganic phosphate homeostasis in neurons, astrocytes, and endothelial cells.
Mechanistically, PiT-1 (show POU1F1 Proteins) and PiT-2 seem to serve redundant roles in phosphate-induced calcification of vascular smooth muscle cells.
reduced intestinal Pi absorption in VDR (-/-) mice does not seem to be the only factor that causes hypophosphatemia; reduced Npt2a, Npt2c, or PiT-2 protein levels during development might also cause hypophosphatemia and rickets in VDR (-/-) mice.
Inorganic phosphate effects on Glvr-1 (show SLC20A1 Proteins) and -2 up-regulation require the presence of calcium and involve ERK (show EPHB2 Proteins) signalling pathways.
Differential regulation of the renal sodium-phosphate cotransporters NaPi-IIa, NaPi-IIc, and PiT-2 in dietary potassium deficiency.
This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
, sodium-dependent phosphate transporter 2
, solute carrier family 20, member 2
, solute carrier family 20 member 2
, solute carrier family 20 (phosphate transporter), member 2
, sodium-dependent phosphate transporter 2-like
, gibbon ape leukemia virus receptor 2
, murine leukemia virus, amphotropic, receptor for
, phosphate transporter 2
, receptor for amphitropic viruses 1
, receptor for amphotropic viruses 1
, receptor Pit2
, type III sodium-dependent phosphate transporter
, Amphotropic murine leukemia virus receptor
, Amphotropic murine retrovirus receptor
, Solute carrier family 20 member 2