免疫原
Synthesized peptide derived from human protein AA range:1-100
特异性
This antibody detects endogenous levels of SOX10.
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Mouse, Monoclonal/IgG1, kappa
稀释比例
WB 1:500-2000. IF 1:100-500. ELISA 1:1000-5000
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
其他名称
DOM; WS4; PCWH; WS2E; WS4C; SOX-10
背景
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],
功能
disease:Defects in SOX10 are a cause of Waardenburg syndrome type 4 (WS4) [MIM:277580]; also known as Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).,disease:Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome [MIM:601706]. The disorder 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.,disease:Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also
