DNAH5 Antibody, HRP conjugated

說明書

中文名稱：

DNAH5兔多克隆抗體, HRP偶聯
貨號：

CSB-PA819476LB01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) DNAH5 Polyclonal antibody
Uniprot No.：

Q8TE73
基因名：

DNAH5
別名：

axonemal antibody; Axonemal beta dynein heavy chain 5 antibody; Ciliary dynein heavy chain 5 antibody; DNAH 5 antibody; Dnah5 antibody; DNAHC5 antibody; DYH5_HUMAN antibody; Dynein heavy chain 5 antibody; Dynein heavy chain 5; axonemal antibody; HL1 antibody; KIAA1603 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Dynein heavy chain 5, axonemal protein (2364-2560AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

HRP
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
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
應用范圍：

ELISA
Protocols：

ELISA 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：

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
基因功能參考文獻：
1. A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. PMID: 28939216
2. to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. PMID: 27779714
3. These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. PMID: 27988889
4. The mutation of p.Glu2610Gly in DNAH5 is novel. PMID: 24912412
5. In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5. PMID: 25134640
6. A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia. PMID: 24150548
7. DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
8. DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing. PMID: 20220176
9. immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization PMID: 16492982
10. DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons. PMID: 16627867
11. Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
12. Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families PMID: 19300264
13. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. PMID: 19357118
14. Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects PMID: 19410201
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相關疾病：

Ciliary dyskinesia, primary, 3 (CILD3)
亞細胞定位：

Cytoplasm, cytoskeleton, cilium axoneme.
蛋白家族：

Dynein heavy chain family
組織特異性：

Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).
數據庫鏈接：

HGNC: 2950

OMIM: 603335

KEGG: hsa:1767

STRING: 9606.ENSP00000265104

UniGene: Hs.212360

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