SLC20A2 Antibody

說明書

中文名稱：

SLC20A2兔多克隆抗體
貨號：

CSB-PA600854ESR2HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human breast cancer using CSB-PA600854ESR2HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human placenta tissue using CSB-PA600854ESR2HU at dilution of 1:100
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) SLC20A2 Polyclonal antibody
Uniprot No.：

Q08357
基因名：

SLC20A2
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
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Sodium-dependent phosphate transporter 2 protein (235-485AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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.
基因功能參考文獻：
1. A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients PMID: 29578123
2. 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
3. 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
4. SLC20A2 expression is reduced in the primary brain familiar calcification patients carrying SLC20A2 mutation. PMID: 28578517
5. This review showed that SLC20A2 was the most common gene involved with 75 out of 137 cases included with brain calcification. PMID: 28162874
6. Deletion of 5' noncoding region of SLC20A2 was associated with primary familial brain calcification in a Finnish family with three affected memebers. PMID: 27726124
7. The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. PMID: 27671522
8. 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
9. Deletions of exon 2 of SLC20A2 identified in two unrelated patients segregated with primary brain calcification. PMID: 27245298
10. 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
11. This study presented the Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. PMID: 26860091
12. SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures. PMID: 26475232
13. 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
14. A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review). PMID: 25726928
15. Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification. PMID: 25906927
16. The SLC20A2 mutation leading to the accumulation of calcium salts in the brain. PMID: 25686613
17. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 25958344
18. 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
19. This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification. PMID: 25284758
20. Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia. PMID: 25636102
21. The mutation of SLC20A2 cause primary familial brain calcifications. PMID: 25212438
22. deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
23. SLC20A2 mutations are a major cause of familial idiopathic basal ganglia calcification in Japan PMID: 24463626
24. SLC20A2 and PDGFRB mutations result in different idiopathic basal ganglia calcification phenotypes. PMID: 24065723
25. Our study supports the hypothesis that SLC20A2 is a causative gene of Idiopathic basal ganglia calcification. PMID: 23939468
26. This finding reinforces the relevance of the SLC20A2 gene to the etiopathogeny of familial idiopathic basal ganglia calcification PMID: 23406454
27. we identified a novel SLC20A2 mutation, which causes a significant decrease in SLC20A2 mRNA expression. PMID: 23437308
28. 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
29. Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification. PMID: 23122642
30. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. PMID: 22327515
31. forms assemblies at cell surface PMID: 11932396
32. structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2] PMID: 15308749
33. 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
34. Analysis of kinetics and substrate specificity of SLC20A2. PMID: 17494632
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相關疾病：

Basal ganglia calcification, idiopathic, 1 (IBGC1)
亞細胞定位：

Cell membrane; Multi-pass membrane protein.
蛋白家族：

Inorganic phosphate transporter (PiT) (TC 2.A.20) family
組織特異性：

Ubiquitously expressed.
數據庫鏈接：

HGNC: 10947

OMIM: 158378

KEGG: hsa:6575

STRING: 9606.ENSP00000340465

UniGene: Hs.653173

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