DKC1 抗体
Quick Overview for DKC1 抗体 (ABIN7468287)
抗原
See all DKC1 抗体适用
宿主
克隆类型
标记
应用范围
质量等级
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特异性
- Knockdown/Knockout validation was supported by references (PMID:26990993)
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交叉反应
- 人
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纯化方法
- Purified by antigen-affinity chromatography.
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免疫原
- Recombinant protein encompassing a sequence within the center region of human DKC1. The exact sequence is proprietary.
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亚型
- IgG
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应用备注
- WB: 1:500-1:3000. ICC/IF: 1:100-1:1000. IHC-P: 1:100-1:1000. Optimal dilutions/concentrations should be determined by the researcher. Not tested in other applications.
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说明
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Validation: KO/KD
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限制
- 仅限研究用
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状态
- Liquid
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浓度
- 1 mg/mL
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缓冲液
- 1XPBS ( pH 7), 1 % BSA, 20 % Glycerol, 0.01 % Thimerosal
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储存液
- Thimerosal (Merthiolate)
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注意事项
- This product contains Thimerosal (Merthiolate): a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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储存条件
- 4 °C,-20 °C
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储存方法
- Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4°C. For long-term storage, aliquot and store at -20°C or below. Avoid multiple freeze-thaw cycles.
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- DKC1 (Dyskeratosis Congenita 1, Dyskerin (DKC1))
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别名
- dyskerin pseudouridine synthase 1
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背景
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Synonyms: dyskerin pseudouridine synthase 1 , CBF5 , DKC , DKCX , NAP57 , NOLA4 , XAP101
Background: This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
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分子量
- 58 kDa
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基因ID
- 1736
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UniProt
- O60832
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途径
- Telomere Maintenance
抗原
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