Anti-DYNC2H1抗体This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport,

产品编号 yb-14468R
英文名称 Anti-DYNC2H1抗体
中文名称 胞质动力蛋白2重链1抗体
别    名 Cytoplasmic dynein 2 heavy chain 1; Cytoplasmic dynein 2 heavy chain; DYHC2_HUMAN; DYNC2H1; Dynein cytoplasmic heavy chain 2; Dynein heavy chain 11; Dynein heavy chain isotype 1B; hDHC11.
Anti-DYNC2H1抗体
说 明 书 0.2ml  
研究领域 细胞生物  发育生物学  信号转导  转运蛋白  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
产品应用 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 492kDa
细胞定位 细胞浆 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human DYNC2H1
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed
产品介绍 background:
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

Function:
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.

Subcellular Location:
Cytoplasm； cytoskeleton； cilium axoneme. Cell membrane. Cytoplasm. Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum.

DISEASE:
Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]. ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency.
Defects in DYNC2H1 are the cause of short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]; also called Verma-Naumoff syndrome. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas.