DYNC2H1 Antibody, FITC conjugated

說明書

中文名稱：

DYNC2H1兔多克隆抗體, FITC偶聯
貨號：

CSB-PA818763LC01HU
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) DYNC2H1 Polyclonal antibody
Uniprot No.：

Q8NCM8
基因名：

DYNC2H1
別名：

Cytoplasmic dynein 2 heavy chain 1 antibody; Cytoplasmic dynein 2 heavy chain antibody; DYHC2_HUMAN antibody; DYNC2H1 antibody; Dynein cytoplasmic heavy chain 2 antibody; Dynein heavy chain 11 antibody; Dynein heavy chain isotype 1B antibody; hDHC11 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Cytoplasmic dynein 2 heavy chain 1 protein (1928-2065AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
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
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：

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells.
基因功能參考文獻：
1. This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China. PMID: 29359448
2. In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. PMID: 27925158
3. Compound heterozygous mutations in DYNC2H1 and ALOX15 were identified in miscarriages from two families with RPL. DYNC2H1 is involved in cilia biogenesis and has been associated with fetal lethality in humans. ALOX15 is expressed in placenta and its dysregulation has been associated with inflammation, placental, dysfunction, abnormal oxidative stress response and angiogenesis. PMID: 26826164
4. next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively PMID: 27323140
5. Compound heterozygous mutation in DYNC2H1 gene is associated with severe short-rib polydactyly syndrome type III. PMID: 25410398
6. Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for cynein cytoplasmic heavy chain 1. PMID: 26147384
7. a DYNC2H1 mutations causing SRPS III PMID: 25982780
8. Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. PMID: 24046448
9. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. PMID: 23456818
10. This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. PMID: 22499340
11. In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities. PMID: 21723285
12. Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6, NPM1 and SRI and lower expression of NRGN and TM4SF2 in GBM tumors. PMID: 16320026
13. short-rib polydactyly syndrome affected individuals were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C PMID: 19361615
14. ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group. PMID: 19442771
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相關疾病：

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
亞細胞定位：

Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm.
蛋白家族：

Dynein heavy chain family
數據庫鏈接：

HGNC: 2962

OMIM: 603297

KEGG: hsa:79659

STRING: 9606.ENSP00000381167

UniGene: Hs.503721

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