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Rabbit Anti-Gigaxonin  antibody (bs-11025R)  
~~~促銷代碼KT202411~~~
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產(chǎn)品編號 bs-11025R
英文名稱 Rabbit Anti-Gigaxonin  antibody
中文名稱 巨軸索神經(jīng)病蛋白GAN抗體
別    名 FLJ38059; GAN; GAN1; Kelch-like protein 16; giant axonal neuropathy; KLHL16; GAN_HUMAN.  
研究領(lǐng)域 神經(jīng)生物學(xué)  信號轉(zhuǎn)導(dǎo)  細(xì)胞粘附分子  細(xì)胞骨架  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Rat (predicted: Human,Mouse,Rabbit,Pig,Sheep,Cow,Horse)
產(chǎn)品應(yīng)用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 68kDa
細(xì)胞定位 細(xì)胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Gigaxonin: 351-450/597 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 Gigaxonin, also refered to as giant axonal neuropathy, GAN1, or KLHL16, controls protein degradation and is essential for neuronal function and survival. Gigaxonin is a member of the cytoskeletal BTB/kelch repeat family and influences cytoskeletal organization and dynamics, playing a large role in neurofilament architecture. The amino terminal BTB domain of gigaxonin binds to the ubiquitin-activating enzyme E1, while the carboxy-terminal kelch repeat domain interacts directly with the light chain of microtubule-associated protein 1B (MAP1B), and tags it for degredation. Overexpression of MAP1B may lead to neuronal cell death, whereas a reduction of MAP1B significantly improves the survival rate of neurons. Mutations in the Gigaxonin gene result in human giant axonal neuropathy (GAN), an autosomal recessive neurodegenerative disorder characterized by axonal degeneration caused by cytoskeletal abnormalities, including accumulated intermediate filaments.

Function:
Mutations in gigaxonin result in a sensory and motor neuropathy called Giant Axonal Neuropathy (GAN). Giant axonal neuropathy, a severe autosomal recessive sensorineural neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distention of axons. Gigaxonin is a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. Gigaxonin contains an N-terminal BTB domain followed by 6 kelch repeats, which were predicted to adopt a beta-propeller shape. Gigaxonin controls protein degradation and is essential for neuronal function and survival. Substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival

Subunit:
Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).

Subcellular Location:
Cytoplasmic; Cytoskeleton.

Tissue Specificity:
Expressed in brain, heart and muscle.

Post-translational modifications:
Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.

DISEASE:
Defects in GAN are the cause of giant axonal neuropathy (GAN) [MIM:256850]. GAN is a severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. It is characterized by neurofilament accumulation, leading to segmental distention of axons.

Similarity:
Contains 1 BACK (BTB/Kelch associated) domain.
Contains 1 BTB (POZ) domain.
Contains 6 Kelch repeats.

SWISS:
Q9H2C0

Gene ID:
8139

Database links:

Entrez Gene: 8139 Human

Entrez Gene: 209239 Mouse

Omim: 605379 Human

SwissProt: Q9H2C0 Human

SwissProt: Q8CA72 Mouse

Unigene: 112569 Human

Unigene: 132992 Mouse



產(chǎn)品圖片
Paraformaldehyde-fixed, paraffin embedded (rat brain tissue); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GAN) Polyclonal Antibody, Unconjugated (bs-11025R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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