转录因子SOX10抗体
规格:1mg/1ml
英文名: SOX10
别名: DOM; MGC15649; SOX 10; SOX10; SOX10_HUMAN; SRY (sex determining region Y) box 10; SRY box containing gene 10; SRY related HMG box gene 10; Transcription factor SOX 10; Transcription factor SOX-10; WS4
分子量: 50kDa
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 SOX10
交叉反应:Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, Sheep,
细胞定位:细胞核 细胞浆
转录因子SOX10抗体产品介绍:background: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008] Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity). Subcellular Location: Cytoplasm. Nucleus Tissue Specificity: Expressed in fetal brain and in ***** brain, heart, small intestine and colon. DISEASE: Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. Defects in SOX10 are a cause of Waardenburg syndrome type 4C (WS4C) [MIM:613266]; also known as Waardenburg-Shah syndrome. WS4C is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the转录因子SOX10抗体 distal part of the intestine (Hirschsprung disease). Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]. YDBHS consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome. Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating 转录因子SOX10抗体leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Similarity: Contains 1 HMG box DNA-binding domain. Gene ID: 6663 Database links: Entrez Gene: 6663 Human Entrez Gene: 20665 Mouse Entrez Gene: 29361 Rat Omim: 602229 Human SwissProt: P56693 Human SwissProt: Q04888 Mouse SwissProt: O55170 Rat Unigene: 376984 Human Unigene: 276739 Mouse Unigene: 10883 Rat Important Note: This product as supplied is intended for research use only, not for 转录因子SOX10抗体use in human, therapeutic or diagnostic applications.
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 **学 神经生物学 干细胞 细胞凋亡 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