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SLC20A2 encodes a member of the inorganic phosphate transporter family. 再加上，我们可以发SLC20A2 抗体 (28) 和 SLC20A2 蛋白 (6)和数多这个蛋白质的别的产品。
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 (显示 CHRNB2 ELISA试剂盒) 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.
The SLC20A2 mutation leading to the accumulation of calcium salts in the brain.
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
clinical, neuroimaging and genetic findings in an Italian family with idiopathic basal ganglia calcification; 2 affected family members harbored a novel missense mutation, G1618A leading to gly540-to-arg (G540R) substitution in a highly conserved residue
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 (显示 POU1F1 ELISA试剂盒) and PiT-2 seem to serve redundant roles in phosphate-induced calcification of vascular smooth muscle cells.
reduced intestinal Pi absorption in VDR (显示 CYP27B1 ELISA试剂盒) (-/-) mice does not seem to be the only factor that causes hypophosphatemia; reduced Npt2a (显示 SLC34A1 ELISA试剂盒), Npt2c (显示 SLC34A3 ELISA试剂盒), or PiT-2 protein levels during development might also cause hypophosphatemia and rickets in VDR (显示 CYP27B1 ELISA试剂盒) (-/-) mice.
Inorganic phosphate effects on Glvr-1 (显示 SLC20A1 ELISA试剂盒) and -2 up-regulation require the presence of calcium and involve ERK (显示 EPHB2 ELISA试剂盒) signalling pathways.
Differential regulation of the renal sodium-phosphate cotransporters NaPi-IIa (显示 SLC34A1 ELISA试剂盒), 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