charlevoix-saguenay型痉挛性共济失调Sacsin蛋白抗体
规格：1mg/1ml
英文名： Sacsin
别名： DnaJ homolog subfamily C member 29; DNAJC29; SACS; SACS_HUMAN; Sacsin; spastic ataxia of Charlevoix-Saguenay.
分子量： 521kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Sacsin
交叉反应：Human, Mouse, Rat, Pig, Rabbit,
细胞定位：细胞浆
charlevoix-saguenay型痉挛性共济失调Sacsin蛋白抗体产品介绍：background: This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Function: Phosphoinositide phosphatase that hydrolyzes PtdIns3P and PtdIns4P. Has low activity towards PtdIns(3,5)P2 (By similarity).charlevoix-saguenay型痉挛性共济失调Sacsin蛋白抗体 Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. Subcellular Location: Cytoplasm. Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. Tissue Specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas. DISEASE: Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]. It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features includecharlevoix-saguenay型痉挛性共济失调Sacsin蛋白抗体 dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. Similarity: Contains 1 HEPN domain. Contains 1 J domain. Contains 1 ubiquitin-like domain. Gene ID: 26278 Database links: Entrez Gene: 26278 Human Entrez Gene: 50720 Mouse Entrez Gene: 305940 Rat Omim: 604490 Human SwissProt: Q9NZJ4 Human SwissProt: Q9JLC8 Mouse Unigene: 159492 Human Unigene: 440703 Mouse Unigene: 446687 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
charlevoix-saguenay型痉挛性共济失调Sacsin蛋白抗体产品应用：WB=1:100-500 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.
研究领域：细胞生物 发育生物学 神经生物学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid