SLC6A8 Antibody
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中文名稱：SLC6A8兔多克隆抗體
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貨號：CSB-PA198676
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規格：￥2024
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圖片：
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Western blot analysis of extracts from HuvEc cells, using SLC6A8 antibody.
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) SLC6A8 Polyclonal antibody
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Uniprot No.：
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基因名：SLC6A8
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宿主：Rabbit
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反應種屬：Human
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免疫原：Synthesized peptide derived from C-terminal of Human SLC6A8.
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免疫原種屬：Homo sapiens (Human)
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克隆類型：Polyclonal
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:3000 -
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：Required for the uptake of creatine in muscles and brain.
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基因功能參考文獻：
- Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport PMID: 28055022
- The present study demonstrated that a novel CRT missense mutation in exon 12 of the SLC6A8 gene (c.1681G>C; p.G561R) causes suppression of creatine transport activity PMID: 28049948
- Data suggest that a specific plasma membrane transporter, creatine transporter (SLC6A8), enables cells to incorporate creatine; creatine uptake is controlled by AMP-activated protein kinase, a ubiquitous sensor of energy depletion. [REVIEW] PMID: 26542286
- both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency PMID: 24597975
- Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane PMID: 25531216
- Both SPAK and OSR1 are negative regulators of the creatine transporter SLC6A8 PMID: 25531585
- The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells. PMID: 25861866
- In the titel. PMID: 25044748
- Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment PMID: 24789340
- It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain. PMID: 24962355
- CTR4 and CTR5 are possible regulators of the creatine transporter since their overexpression results in upregulated CTR1 protein and creatine uptake. PMID: 24561156
- Combination of deep sequencing technology with long-range PCR revealed a novel intragenic duplication in the SLC6A8 gene, providing a definitive molecular diagnosis of creatine transporter deficiency in a male patient. PMID: 24140398
- Creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar mental retardation and diagnostic screening of them should always include screening for SLC6A8 deficiency. PMID: 24137762
- a de novo mutation in the SLC6A8 gene in 101 males with X-linked creatine transporter deficiency PMID: 23644449
- study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. PMID: 23578822
- a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types was identified. PMID: 24144841
- SLC6A8 mutants displayed no electrogenic activity with all Cr analogs tested in X. laevis oocytes. PMID: 22644605
- report the first two Spanish adult patients with creatine transporter deficiency and compare their clinical phenotype and the evolution of the disease with those of other published cases PMID: 19319661
- Missense mutations in SLC6A8 gene is associated with X-linked disorder. PMID: 22281021
- analysis of X-linked creatine transporter defect in nine boys shows that it has an effect on IQ PMID: 21556832
- impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures PMID: 21140503
- Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability. PMID: 21267006
- symptoms of the creatine transporter defect (mental retardation, learning difficulties, and constipation) can be present in female SLC6A8 heterozygotes PMID: 20528887
- SLC6A8 genes may not be directly involved in human male infertility PMID: 21190923
- Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disabilit PMID: 20846889
- Hemizygosity for a novel deletion producing a frameshift (c.974_975delCA, p.Thr325SerfsX139) in the creatine transporter gene is associated with X-linked cerebral creatine deficiency. PMID: 20602486
- Guanidinoacetate is transported from AGAT- to GAMT-expressing cells through SLC6A8 to allow creatine synthesis, thereby explaining creatine deficiency in SLC6A8-deficient CNS. PMID: 19879361
- X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 PMID: 11898126
- X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. PMID: 12210795
- High prevalence of SLC6A8 deficiency in X-linked mental retardation PMID: 15154114
- involvement of residues from transmembrane domain 3 is a common feature of the substrate pathway of the creatine transporter PMID: 16049011
- Creatine transporter deficiency associated with gene deficiency of this protein. PMID: 16086185
- Mutations in the creatine transporter gene SLC6A8 may be a relatively major contributor in males with mental retardation of unknown cause. PMID: 16738945
- Exhibition of a developmental apraxia of speech with motor planning and execution deficit in a creatine transporter (SLC6A8) mutation. PMID: 17603797
- identified two brothers with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene PMID: 18350323
- A novel deletion (c.1690-1703 del) in exon 12 of SLC6A8 resulted in a frameship mutation associated with global developmental delay and premature ventricular beats. PMID: 18443316
- This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse. PMID: 18515020
- The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk. PMID: 19188083
- The estimated amount of total creatine in the placenta and brain significantly increased in the second half of pregnancy, coinciding with a significant increase in expression of CrT mRNA. PMID: 19570237
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相關疾?。?/div>Cerebral creatine deficiency syndrome 1 (CCDS1)亞細胞定位：Membrane; Multi-pass membrane protein.蛋白家族：Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family, SLC6A8 subfamily組織特異性：Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.數據庫鏈接：
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