扫码关注公众号           扫码咨询技术支持           扫码咨询技术服务
  
客服热线:400-901-9800  客服QQ:4009019800  技术答疑  技术支持  质量反馈  关于我们  联系我们
产品中心-北京博奥森生物技术有限公司
首页 > 产品中心 > 一抗 > 产品信息
SPG48 Rabbit pAb (bs-11760R)  
订购热线:400-901-9800
订购邮箱:sales@bioss.com.cn
订购QQ:  400-901-9800
技术支持:techsupport@bioss.com.cn
50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价

产品编号 bs-11760R
英文名称 SPG48 Rabbit pAb
中文名称 SPG48蛋白抗体
别    名 Hypothetical protein LOC9907; KIAA0415; Uncharacterized protein KIAA0415; AP5Z1_HUMAN.  
研究领域 细胞生物  神经生物学  表观遗传学  
抗体来源 Rabbit
克隆类型 Polyclonal
克 隆 号
交叉反应 Human
产品应用 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.
理论分子量 89 kDa
检测分子量
细胞定位 细胞核 细胞浆 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SPG48: 288-370/807 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. KIAA0415 is a 807 amino acid protein that exists as three alternatively spliced isoforms. The KIAA0415 gene product has been provisionally designated KIAA0415 pending further characterization.

Function:
The function of SPG48 remains unknown. There are 3 named isoforms produced by alternative splicing.

Subunit:
Probably part of the adapter protein complex 5 (AP-5) atetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts withZFYVE26 and SPG11.

Subcellular Location:
Cytoplasm. Nucleus. Note=By SDS-PAGE, 2isoforms have been observed, the shorter seems to be predominantlynuclear and the longer is mostly cytoplasmic (PubMed:20613862).

DISEASE:
Defects in AP5Z1 are the cause of spastic paraplegiaautosomal recessive type 48 (SPG48) [MIM:613647]. A form of spasticparaplegia, a neurodegenerative disorder characterized by a slow,gradual, progressive weakness and spasticity of the lower limbs.Rate of progression and the severity of symptoms are quitevariable. Initial symptoms may include difficulty with balance,weakness and stiffness in the legs, muscle spasms, and dragging thetoes when walking. In some forms of the disorder, bladder symptoms(such as incontinence) may appear, or the weakness and stiffnessmay spread to other parts of the body.

SWISS:
O43299

Gene ID:
9907

Database links:

Entrez Gene: 9907 Human

Entrez Gene: 231855 Mouse

Omim: 613653 Human

SwissProt: O43299 Human

SwissProt: Q3U829 Mouse



产品图片
Paraformaldehyde-fixed, paraffin embedded (Human brain glioma); 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 (SPG48) Polyclonal Antibody, Unconjugated (bs-11760R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
版权所有 2004-2026 www.bioss.com.cn 北京博奥森生物技术有限公司
通过国际质量管理体系ISO 9001:2015 GB/T 19001-2016    证书编号: 00124Q34771R2M/1100
通过国际医疗器械-质量管理体系ISO 13485:2016 GB/T 42061-2022    证书编号: CQC24QY10047R0M/1100
京ICP备05066980号-1         京公网安备110107000727号