SLC20A2 Antibody
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中文名稱：SLC20A2兔多克隆抗體
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貨號：CSB-PA021441GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：
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別名：Gibbon ape leukemia virus receptor 2 antibody; Gibbon leukemia virus receptor 2 antibody; GLVR 2 antibody; GLVR-2 antibody; GLVR2 antibody; hPit2 antibody; IBGC3 antibody; MLVAR antibody; Murine leukemia virus amphotropic receptor antibody; murine leukemia virus, amphotropic, receptor for antibody; Phosphate transporter 2 antibody; PIT 2 antibody; PiT-2 antibody; Pit2 antibody; RAM1 antibody; S20A2_HUMAN antibody; SLC20A2 antibody; Sodium-dependent phosphate transporter 2 antibody; Solute carrier family 20 (phosphate transporter) member 2 antibody; solute carrier family 20 (phosphate transporter), member 2 antibody; Solute carrier family 20 member 2 antibody
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宿主：Rabbit
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human SLC20A2
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity Purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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功能：Sodium-phosphate symporter which seems to play a fundamental housekeeping role 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. In vitro, sodium-dependent phosphate uptake is not significantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.
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基因功能參考文獻：
- A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients PMID: 29578123
- This study demonstrated that the frequently mutated gene is SLC20A2 caused primary familial brain calcifications where mutations can affect any domain of the protein. PMID: 29325620
- The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. PMID: 29034894
- SLC20A2 expression is reduced in the primary brain familiar calcification patients carrying SLC20A2 mutation. PMID: 28578517
- This review showed that SLC20A2 was the most common gene involved with 75 out of 137 cases included with brain calcification. PMID: 28162874
- Deletion of 5' noncoding region of SLC20A2 was associated with primary familial brain calcification in a Finnish family with three affected memebers. PMID: 27726124
- The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. PMID: 27671522
- 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. PMID: 28722801
- Deletions of exon 2 of SLC20A2 identified in two unrelated patients segregated with primary brain calcification. PMID: 27245298
- 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. PMID: 27943094
- This study presented the Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. PMID: 26860091
- SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures. PMID: 26475232
- 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. PMID: 26129893
- A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review). PMID: 25726928
- Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification. PMID: 25906927
- The SLC20A2 mutation leading to the accumulation of calcium salts in the brain. PMID: 25686613
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 25958344
- 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 PMID: 25348593
- This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification. PMID: 25284758
- Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia. PMID: 25636102
- The mutation of SLC20A2 cause primary familial brain calcifications. PMID: 25212438
- deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
- SLC20A2 mutations are a major cause of familial idiopathic basal ganglia calcification in Japan PMID: 24463626
- SLC20A2 and PDGFRB mutations result in different idiopathic basal ganglia calcification phenotypes. PMID: 24065723
- Our study supports the hypothesis that SLC20A2 is a causative gene of Idiopathic basal ganglia calcification. PMID: 23939468
- This finding reinforces the relevance of the SLC20A2 gene to the etiopathogeny of familial idiopathic basal ganglia calcification PMID: 23406454
- we identified a novel SLC20A2 mutation, which causes a significant decrease in SLC20A2 mRNA expression. PMID: 23437308
- Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 23334463
- Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification. PMID: 23122642
- Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. PMID: 22327515
- forms assemblies at cell surface PMID: 11932396
- structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2] PMID: 15308749
- the presence of an aspartic acid in either of the PiT family signature sequences is critical for the Na+-dependent P(i) transport function of human PiT2 PMID: 15955065
- Analysis of kinetics and substrate specificity of SLC20A2. PMID: 17494632
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相關(guān)疾病：Basal ganglia calcification, idiopathic, 1 (IBGC1)
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亞細胞定位：Cell membrane; Multi-pass membrane protein.
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蛋白家族：Inorganic phosphate transporter (PiT) (TC 2.A.20) family
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組織特異性：Ubiquitously expressed.
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