GAN Antibody

說明書

中文名稱：

GAN兔多克隆抗體
貨號：

CSB-PA009228GA01HU
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.：

Q9H2C0
基因名：

GAN
別名：

FLJ38059 antibody; GAN (gene name) antibody; GAN antibody; GAN_HUMAN antibody; GAN1 (gene name) antibody; Gigaxonin antibody; Kelch-like protein 16 antibody; KLHL16 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Mouse,Rat
免疫原：

Human GAN
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 0.02% 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：

Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a 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.
基因功能參考文獻(xiàn)：
1. Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease PMID: 26492578
2. We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer PMID: 27023907
3. A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2. PMID: 27852232
4. a proteomic screen to identify the normal binding partners of GIG, is reported. PMID: 26460568
5. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN. PMID: 25533284
6. This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy. PMID: 24758703
7. A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy. PMID: 23332420
8. gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments PMID: 23585478
9. No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia). PMID: 19782434
10. Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. PMID: 16303566
11. Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics. PMID: 17256086
12. 3 new mutants were found in patients with giant axonal neuropathy: an intronic mutation near the splice donor site of intron 2 & a missense mutation in exon 3 (I182N), & 2 identical deletion alleles. PMID: 17331252
13. Five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified. PMID: 17578852
14. gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions PMID: 17587580
15. a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report] PMID: 18595793
16. Study shows that the gigaxonin E3 ligase subunit is normally expressed at a very low level and that various missense and nonsense mutations scattered across the entire GAN gene produce highly unstable protein products. PMID: 19168853
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相關(guān)疾病：

Giant axonal neuropathy 1, autosomal recessive (GAN1)
亞細(xì)胞定位：

Cytoplasm. Cytoplasm, cytoskeleton.
組織特異性：

Expressed in brain, heart and muscle.
數(shù)據(jù)庫鏈接：

HGNC: 4137

OMIM: 256850

KEGG: hsa:8139

STRING: 9606.ENSP00000248272

UniGene: Hs.112569

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