SLC7A9 Antibody

說明書

中文名稱：

SLC7A9兔多克隆抗體
貨號：

CSB-PA146812
規格：

￥1100
圖片：
The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA146812(SLC7A9 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)

The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA146812(SLC7A9 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

P82251
基因名：

SLC7A9
別名：

SLC7A9 antibody; BAT1b(0,+)-type amino acid transporter 1 antibody; b(0,+)AT1 antibody; Glycoprotein-associated amino acid transporter b0,+AT1 antibody; Solute carrier family 7 member 9 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Synthetic peptide of Human SLC7A9
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
抗體亞型：

IgG
純化方式：

Antigen affinity purification
濃度：

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

-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
產品提供形式：

Liquid
應用范圍：

ELISA,IHC

推薦稀釋比：

Application	Recommended Dilution
ELISA	1:2000-1:5000
IHC	1:25-1:100

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：

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
基因功能參考文獻：
1. Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Only missense mutation V142A had a benign effect on the protein structure and function of SLC7A9. The intron variant c.604+66C>G in SLC7A9 gene probably affected the splicing process. PMID: 30069816
2. Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated PMID: 28689648
3. Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. PMID: 28646536
4. Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria. PMID: 28812535
5. A new variation in exon 4 of the SLC7A9 gene was identified in cystinuria patients, which was insertion of 1 adenine nucleotide between 2 cytosine nucleotides in position c.213-214insA. PMID: 28270646
6. Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients PMID: 26540609
7. G105R but not R333W mutation found in Iranian cystinuria patients PMID: 26123750
8. Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients. PMID: 25964309
9. Case Report: novel mutation of SLC7A9 gene in cystinuria. PMID: 25599739
10. We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B). PMID: 24045899
11. In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients. PMID: 21255007
12. Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9. PMID: 19782624
13. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption PMID: 12167606
14. in cystinuria, the detection rate for mutations in SLC7A9 in children was 25% in the SLC7A9 gene for non-type I chromosomes. PMID: 12234283
15. The finding of SLC7A9 mutations in all three subtypes underscores the complex interactions between specific cystinuria genes and other factors influencing cystine excretion. PMID: 12371955
16. Three novel SLC7A9 mutations were identified: two missense mutations (P261L and V330M) and one single base-pair deletion (1009 delA) PMID: 12820697
17. deletions in SLC7A9 in cystinuria PMID: 14531788
18. Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany. PMID: 14991253
19. Mutational analysis should focus on this gene in inheritance of cytinuria. PMID: 15635077
20. Disease: cystinuria, type non-I.Deletion codon 50. PMID: 15818799
21. gene deletion , codon 423 in cystinuria, type non-1. PMID: 15818803
22. SLC3A1 and SLC7A9 mutations may have roles in cystinuria PMID: 16138908
23. Mutations of SLC7A9 for Japanese cystinuria patients are different from those reported for European and American population. PMID: 16609684
24. all carriers of a SLC7A9 mutation manifested cystinuria if their normal allele had non-wild type nucleotides in two or more of the identified polymorphic sites PMID: 16838140
25. a novel splice-acceptor site mutation in the SLC7A9 gene may have a role in cystinuria [case report] PMID: 17701443
26. To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs PMID: 17710781
27. Twenty-four novel mutations in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinyuria genes are reported. PMID: 18752446
28. SLC3A1 and SLC7A9 mutations identified in 52 Greek cystinuria patients; in total 14 mutations were identified in SLC3A1 and 12 in SLC7A9. PMID: 18778962
29. Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells. PMID: 19322909
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相關疾病：

Cystinuria (CSNU)
亞細胞定位：

Apical cell membrane; Multi-pass membrane protein.
蛋白家族：

Amino acid-polyamine-organocation (APC) superfamily
組織特異性：

Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.
數據庫鏈接：

HGNC: 11067

OMIM: 220100

KEGG: hsa:11136

STRING: 9606.ENSP00000023064

UniGene: Hs.743345

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