SLC19A2 Antibody
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中文名稱：SLC19A2兔多克隆抗體
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貨號：CSB-PA021430LA01HU
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規格：￥440
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圖片：
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IHC image of CSB-PA021430LA01HU diluted at 1:300 and staining in paraffin-embedded human prostate tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system. -
IHC image of CSB-PA021430LA01HU diluted at 1:300 and staining in paraffin-embedded human glioma performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) SLC19A2 Polyclonal antibody
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Uniprot No.：
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基因名：SLC19A2
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別名：S19A2_HUMAN antibody; SLC19A2 antibody; Solute carrier family 19 member 2 antibody; TC1 antibody; Thiamine carrier 1 antibody; Thiamine transporter 1 antibody; THT1 antibody; ThTr 1 antibody; ThTr-1 antibody; ThTr1 antibody; TRMA antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Thiamine transporter 1 protein (209-285AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Non-conjugated
本頁面中的產品，SLC19A2 Antibody (CSB-PA021430LA01HU)，的標記方式是Non-conjugated。對于SLC19A2 Antibody，我們還提供其他標記。見下表：
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G 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：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA, IHC
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推薦稀釋比：
Application Recommended Dilution IHC 1:200-1:500 -
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.
產品評價
相關產品
靶點詳情
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功能：High-affinity transporter for the intake of thiamine.
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基因功能參考文獻：
- SLC19A2 mutation is associated with permanent neonatal diabetes mellitus. PMID: 28371426
- A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.( PMID: 29969779
- A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome. PMID: 25707023
- Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma. PMID: 24771227
- The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. PMID: 24357267
- the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism PMID: 24520986
- Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia. PMID: 24355766
- Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient. PMID: 23638917
- Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak. PMID: 24509276
- study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus. PMID: 24072090
- These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines. PMID: 23642734
- study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia PMID: 23289844
- Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes. PMID: 23285265
- Thiamine transporter 2 deficiency is a recessive disease caused by mutations in the SLC19A3 genes. PMID: 23589815
- A non-sense mutation SLC19A2 was found in four patients with Thiamine-responsive megaloblastic anemia, indicating its high frequency in Persian population. PMID: 23454484
- Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. PMID: 22369132
- Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A. PMID: 22876572
- Data show that MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor. PMID: 20466634
- No SLC25A38 mutations were found among sixty CSA probands examined PMID: 19731322
- the effect of mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on functional activity and membrane expression of the transporter. PMID: 12065289
- insertion of the thiamine transporter 1 linkers into reduced folate carrier (D215-R263 Delta) at position 215 restored 60-80% of wild-type levels of transport PMID: 12227830
- correlate structure with cellular expression profile and reveal a critical dependence on backbone integrity and microtubule-based trafficking processes for functional expression PMID: 12454006
- the importance of GKLF, NF-1, and SP-1 in regulating the activity of the SLC19A2 promoter PMID: 12900388
- hTHTR-2 is expressed along the human gastrointestinal tract and that expression of its protein in intestinal epithelia is mainly localized to the apical brush-border membrane domain PMID: 14615284
- this functional characterization of the D93H mutation of THTR1 provides a molecular basis for Rogers syndrome PMID: 14622275
- Missense mutation in the SLC19A2 gene is associated with thiamine-responsive megaloblastic anemia syndrome PMID: 14994241
- Findings indicate that the RFC1 genotype is a possible susceptible gene marker for an increased neural tube defects risk in Chinese population. PMID: 15952116
- Three genetic variants of SLC19A2 gene were identified in Wernicke Korsakoff syndrome patients. PMID: 16015585
- differentiation of intestinal epithelial cells is associated with an up-regulation in thiamin uptake process which is mediated via transcriptional regulatory mechanisms that involve the SLC19A2 and SLC19A3 genes PMID: 16055442
- analysis of targeting and trafficking of hTHTR1 and hTHTR2 in epithelial cells PMID: 16371350
- We have identified a novel missense mutation (T158R) that was excluded in 100 control alleles. PMID: 16373304
- Thiamine uptake by HEK-293 cells is mediated via a specific pH-dependent process, which involves both the hTHTR-1 and hTHTR-2. PMID: 16705148
- results show spectrum of mutant phenotypes, underlining that thiamine-responsive megaloblastic anaemia can result from decreased thiamine transport underpinned by changes in THTR1 expression levels, cellular targeting and/or protein transport activity PMID: 17331069
- THTR1 is involved in thiamine transport by retinal pigment epithelium. Mutations found in thiamine-responsive megaloblastic anemia impaired THTR1 expression/function. PMID: 17463047
- Three infants with thiamine-responsive megaloblastic anemia were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. PMID: 17659067
- findings suggest that the RFC G80A polymorphism may influence outcome in childhood ALL patients being treated with methotrexate PMID: 19340000
- Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process. PMID: 19423748
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相關疾?。?/div>Thiamine-responsive megaloblastic anemia syndrome (TRMA)亞細胞定位：Cell membrane; Multi-pass membrane protein.蛋白家族：Reduced folate carrier (RFC) transporter (TC 2.A.48) family組織特異性：Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.數據庫鏈接：
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