POLR3A Antibody

說明書

中文名稱：

POLR3A兔多克隆抗體
貨號(hào)：

CSB-PA018343GA01HU
規(guī)格：

￥3,900
其他：

產(chǎn)品詳情
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

Uniprot No.：

O14802
基因名：

POLR3A
別名：

BC053071 antibody; DNA directed RNA polymerase III largest subunit antibody; DNA directed RNA polymerase III subunit A antibody; DNA-directed RNA polymerase III largest subunit antibody; DNA-directed RNA polymerase III subunit A antibody; DNA-directed RNA polymerase III subunit RPC1 antibody; hRPC155 antibody; MGC62420 antibody; POLR 3A antibody; POLR3A antibody; Polymerase (RNA) III (DNA directed) polypeptide A 155kDa antibody; Polymerase (RNA) III (DNA directed) polypeptide A antibody; RGD1305574 antibody; RNA polymerase III 155 kDa subunit antibody; RNA polymerase III subunit C1 antibody; RNA polymerase III subunit C160 antibody; RNA polymerase III subunit RPC155 D antibody; RPC1 antibody; RPC1_HUMAN antibody; RPC155 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Mouse,Rat
免疫原：

Human POLR3A
免疫原種屬：

Homo sapiens (Human)
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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲(chǔ)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(chǎn)品評價(jià)

靶點(diǎn)詳情

功能：

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.
基因功能參考文獻(xiàn)：
1. we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann-Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes PMID: 30450527
2. RNA polymerase III (Pol III) transcribes medium-sized non-coding RNAs (collectively termed Pol III genes), and data show that when Pol III genes are hypo-methylated, MYC amplifies their transcription, regardless of its recognition DNA motif. PMID: 28846112
3. the first transgenic mice with a leukodystrophy-causing Polr3a mutation do not recapitulate the childhood-onset hypomyelinating leukodystrophy observed in the majority of human patients with POLR3A mutations. PMID: 28407788
4. This is the first individual reported with two truncating POLR3A variants, suggesting that biallelic severe loss of function variants are associated with WRS. Sequencing of POLR3A and perhaps related genes such as POLR3B in additional patients with clinical findings of WRS is needed to prove this gene-disease association. PMID: 27612211
5. Findings suggest that AP-1 factors are regulators of RNA polymerase III (Pol III)-driven 5S rRNA and U6 snRNA expression with a potential role in cell proliferation. PMID: 28488757
6. For some of its complex functions, variation in RNAP III activity levels lead to nonuniform changes in tRNA pools that can shift the translation profiles of key codon-biased mRNAs with resultant phenotypes or disease states. (Review) PMID: 27068803
7. Mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. PMID: 28459997
8. RNA polymerase III (RNAPIII) is specialized for transcription of short, abundant nonprotein-coding RNA transcripts. PMID: 27911719
9. Our transcriptome-wide investigations revealed an overall decrease in the levels of Pol III-transcribed tRNAs and an imbalance in the levels of regulatory ncRNAs such as small nuclear and nucleolar RNAs (snRNAs and snoRNAs). PMID: 27506977
10. Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype: diffuse hypomyelination is not an obligatory feature of POLR3-related disorders; two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders PMID: 27029625
11. Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination. PMID: 26011300
12. Mutations in POLR3A are associated with a more severe clinical course of 4H leukodystrophy. PMID: 25339210
13. MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations PMID: 23643445
14. Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients. PMID: 23355746
15. Studies indicate that aatients with anti-RNAP have an increased risk of malignancy within a 5-year timeframe before or after onset of systemic sclerosis (SSc) skin changes. PMID: 22189167
16. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy PMID: 22036171
17. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. PMID: 21855841
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相關(guān)疾病：

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
亞細(xì)胞定位：

Nucleus.
蛋白家族：

RNA polymerase beta' chain family
組織特異性：

Expressed in the brain, in the cortex and the white matter (at protein level).
數(shù)據(jù)庫鏈接：

HGNC: 30074

OMIM: 607694

KEGG: hsa:11128

STRING: 9606.ENSP00000361446

UniGene: Hs.436896

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